10q22.3q23.3 microdeletion syndrome is a rare genetic disorder caused by a deletion of a small piece of genetic material from a specific region of chromosome 10. It is characterized by intellectual disability, developmental delay, and a variety of physical features. Other features may include seizures, autism spectrum disorder, and/or congenital heart defects.  Read More

10q22.3q23.3 microduplication syndrome is a rare genetic disorder caused by a small duplication of genetic material on the long arm of chromosome 10. It is characterized by a variety of physical and developmental features, including intellectual disability, delayed speech and language development, hypotonia, and facial dysmorphism.  Read More

11p15.4 microduplication syndrome is a rare genetic disorder caused by a small duplication of genetic material on the short arm of chromosome 11. It is characterized by a variety of physical and developmental features, including intellectual disability, delayed growth, and facial abnormalities.  Read More

11q22.2q22.3 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the long arm of chromosome 11. It is characterized by intellectual disability, developmental delay, and a variety of physical features. Other features may include seizures, autism spectrum disorder, and heart defects.  Read More

12q14 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the long arm of chromosome 12. It is characterized by a wide range of physical and developmental features, including intellectual disability, delayed development, and physical abnormalities. Other features may include seizures, hearing loss, and vision problems.  Read More

12q15q21.1 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material from a specific region of chromosome 12. It is characterized by intellectual disability, developmental delay, and a variety of physical features. Other features may include seizures, autism spectrum disorder, and/or congenital heart defects.  Read More

13q12.3 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the long arm of chromosome 13. It is characterized by a wide range of physical and developmental features, including intellectual disability, delayed growth, and facial abnormalities. Other features may include heart defects, hearing loss, and kidney problems.  Read More

14q11.2 microdeletion syndrome is a rare genetic disorder caused by a missing piece of genetic material on the long arm of chromosome 14. It is characterized by a wide range of physical and developmental features, including intellectual disability, delayed speech and language development, and behavioral problems. Other features may include heart defects, hearing loss, and facial differences.  Read More

14q11.2 microduplication syndrome is a rare genetic disorder caused by a small duplication of genetic material on the long arm of chromosome 14. It is characterized by a wide range of physical and developmental features, including intellectual disability, delayed speech and language development, behavioral problems, and physical abnormalities.  Read More

14q22q23 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the long arm of chromosome 14. It is characterized by a wide range of physical and developmental abnormalities, including intellectual disability, delayed growth, and facial dysmorphism. Other features may include heart defects, hearing loss, and kidney abnormalities.  Read More

14q24.1q24.3 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material from a specific region of chromosome 14. It is characterized by intellectual disability, developmental delay, and a variety of physical features. Other features may include seizures, autism spectrum disorder, and heart defects.  Read More

14q32 duplication syndrome is a rare genetic disorder caused by a duplication of genetic material on the long arm of chromosome 14. It is characterized by a wide range of physical and developmental abnormalities, including intellectual disability, delayed development, and physical malformations. Other symptoms may include seizures, autism, and behavioral problems.  Read More

15q Overgrowth Syndrome is a rare genetic disorder caused by a duplication of the long arm of chromosome 15. It is characterized by physical overgrowth, developmental delays, and a variety of other medical issues. Common features include macrocephaly (an abnormally large head), hypotonia (low muscle tone), and facial dysmorphism (abnormal facial features). Other features may include intellectual disability, seizures, and behavioral problems.  Read More

15q11.2 microdeletion syndrome is a rare genetic disorder caused by a missing piece of genetic material on the long arm of chromosome 15. It is characterized by intellectual disability, developmental delays, speech and language delays, and behavioral problems. Other features may include seizures, autism spectrum disorder, and physical abnormalities.  Read More

15q11q13 microduplication syndrome is a rare genetic disorder caused by a small duplication of genetic material on the long arm of chromosome 15. It is characterized by a wide range of physical and developmental features, including intellectual disability, speech and language delays, autism spectrum disorder, and behavioral problems.  Read More

15q13.3 microdeletion syndrome is a rare genetic disorder caused by a small deletion of genetic material on the long arm of chromosome 15. It is associated with a wide range of physical and cognitive disabilities, including intellectual disability, developmental delays, seizures, and autism spectrum disorder.  Read More

15q14 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the long arm of chromosome 15. It is characterized by intellectual disability, developmental delays, and physical abnormalities. Symptoms can vary from person to person, but may include seizures, speech delays, and behavioral problems.  Read More

16p11.2p12.2 microdeletion syndrome is a rare genetic disorder caused by the deletion of a small piece of genetic material from a specific region of chromosome 16. It is characterized by a wide range of physical and developmental features, including intellectual disability, autism spectrum disorder, speech and language delays, and behavioral problems.  Read More

16p11.2p12.2 microduplication syndrome is a rare genetic disorder caused by a small duplication of genetic material on the short arm of chromosome 16. It is characterized by a wide range of physical and developmental features, including intellectual disability, autism spectrum disorder, speech and language delays, and behavioral problems.  Read More

16p12.1p12.3 triplication syndrome is a rare genetic disorder caused by the presence of three copies of a small segment of chromosome 16. It is characterized by developmental delays, intellectual disability, and a variety of physical features. Common features include low muscle tone, short stature, and distinctive facial features. Other features may include heart defects, seizures, and behavioral problems.  Read More

16p13.11 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the short arm of chromosome 16. It is characterized by intellectual disability, developmental delays, and a variety of physical features. Other features may include seizures, autism spectrum disorder, and behavioral problems.  Read More

16p13.11 microduplication syndrome is a rare genetic disorder caused by a small duplication of genetic material on the short arm of chromosome 16. It is characterized by a wide range of physical and developmental features, including intellectual disability, delayed development, speech and language delays, autism spectrum disorder, and behavioral problems.  Read More

16p13.2 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the short arm of chromosome 16. It is characterized by intellectual disability, developmental delays, and physical abnormalities. Common features include low muscle tone, seizures, heart defects, and facial dysmorphism.  Read More

16p13.3 microduplication syndrome is a rare genetic disorder caused by a small duplication of genetic material on the short arm of chromosome 16. It is characterized by a wide range of physical and developmental features, including intellectual disability, delayed development, speech and language delays, autism spectrum disorder, and behavioral problems.  Read More

16q24.1 microdeletion syndrome is a rare genetic disorder caused by the deletion of a small piece of genetic material from a specific region of chromosome 16. It is characterized by a wide range of physical and developmental features, including intellectual disability, delayed development, and physical abnormalities. Other features may include seizures, autism spectrum disorder, and behavioral problems.  Read More

16q24.3 microdeletion syndrome is a rare genetic disorder caused by the deletion of a small piece of genetic material from a specific region of chromosome 16. It is characterized by a wide range of physical and developmental features, including intellectual disability, delayed development, and physical abnormalities. Other features may include seizures, autism spectrum disorder, and behavioral problems.  Read More

17p11.2 microduplication syndrome is a rare genetic disorder caused by a small duplication of genetic material on the short arm of chromosome 17. It is characterized by a variety of physical and developmental features, including intellectual disability, delayed development, speech and language delays, and behavioral problems.  Read More

17p13.3 microduplication syndrome is a rare genetic disorder caused by a small duplication of genetic material on the short arm of chromosome 17. It is characterized by a wide range of physical and developmental features, including intellectual disability, delayed development, speech and language delays, and behavioral problems.  Read More

17q11.2 microduplication syndrome is a rare genetic disorder caused by an extra copy of genetic material on the long arm of chromosome 17. It is characterized by a wide range of physical and developmental features, including intellectual disability, speech and language delays, autism spectrum disorder, and behavioral problems. Other features may include seizures, hypotonia, and facial dysmorphism.  Read More

17q12 microdeletion syndrome is a rare genetic disorder caused by the deletion of a small piece of genetic material on the long arm of chromosome 17. It is characterized by a wide range of physical and developmental features, including intellectual disability, delayed development, and physical abnormalities. Other features may include seizures, autism, and heart defects.  Read More

17q12 microduplication syndrome is a rare genetic disorder caused by a small duplication of genetic material on the long arm of chromosome 17. It is characterized by a wide range of physical and developmental features, including intellectual disability, speech and language delays, autism spectrum disorder, and behavioral problems. Other features may include seizures, hypotonia, and facial dysmorphism.  Read More

17q21.31 microduplication syndrome is a rare genetic disorder caused by a small duplication of genetic material on the long arm of chromosome 17. It is characterized by a wide range of physical and developmental features, including intellectual disability, speech and language delays, autism spectrum disorder, and behavioral problems.  Read More

17q23.1q23.2 microdeletion syndrome is a rare genetic disorder caused by the deletion of a small piece of genetic material from a specific region of chromosome 17. It is characterized by intellectual disability, developmental delays, and physical abnormalities. Common features include low muscle tone, seizures, heart defects, and vision and hearing problems.  Read More

17q24.2 microdeletion syndrome is a rare genetic disorder caused by the deletion of a small piece of genetic material from a specific region of chromosome 17. It is characterized by a wide range of physical and developmental features, including intellectual disability, delayed development, speech and language delays, and behavioral problems. Other features may include seizures, heart defects, and vision and hearing problems.  Read More

19p13.12 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the short arm of chromosome 19. It is characterized by a wide range of physical and developmental features, including intellectual disability, delayed development, speech and language delays, and behavioral problems. Other features may include seizures, hypotonia, facial dysmorphism, and heart defects.  Read More

19p13.13 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the short arm of chromosome 19. It is characterized by a wide range of physical and developmental features, including intellectual disability, delayed development, speech and language delays, and behavioral problems. Other features may include seizures, hearing loss, vision problems, and heart defects.  Read More

19p13.3 microduplication syndrome is a rare genetic disorder caused by a small duplication of genetic material on the short arm of chromosome 19. It is characterized by a wide range of physical and developmental features, including intellectual disability, delayed development, speech and language delays, and behavioral problems.  Read More

19q13.11 microdeletion syndrome is a rare genetic disorder caused by the deletion of a small piece of genetic material from a specific location on chromosome 19. It is characterized by intellectual disability, developmental delays, and physical abnormalities. Symptoms can vary from person to person, but may include seizures, vision and hearing problems, and heart defects.  Read More

1p21.3 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the short arm of chromosome 1. It is characterized by a wide range of physical and developmental features, including intellectual disability, delayed development, and physical abnormalities. Other features may include heart defects, hearing loss, and vision problems.  Read More

1p31p32 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the short arm of chromosome 1. It is characterized by a wide range of physical and developmental abnormalities, including intellectual disability, delayed growth, and facial dysmorphism.  Read More

1p35.2 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the short arm of chromosome 1. It is characterized by intellectual disability, developmental delays, and physical abnormalities. Symptoms can vary from person to person, but may include speech and language delays, hypotonia, seizures, and facial dysmorphism.  Read More

1p36 deletion syndrome is a rare genetic disorder caused by the deletion of a small piece of chromosome 1. It is characterized by a wide range of physical and developmental problems, including intellectual disability, delayed development, seizures, heart defects, and vision and hearing problems.  Read More

1q21.1 microdeletion syndrome is a rare genetic disorder caused by the deletion of a small piece of genetic material from a specific location on chromosome 1. It is characterized by a wide range of physical and developmental features, including intellectual disability, delayed development, speech and language delays, and behavioral problems. It can also cause physical features such as low birth weight, small head size, and heart defects.  Read More

1q21.1 microduplication syndrome is a rare genetic disorder caused by an extra copy of genetic material on the long arm of chromosome 1. It is characterized by a wide range of physical and developmental features, including intellectual disability, delayed development, speech and language delays, behavioral problems, and physical abnormalities.  Read More

1q41q42 microdeletion syndrome is a rare genetic disorder caused by the deletion of a small piece of genetic material from the long arm of chromosome 1. It is characterized by a wide range of physical and developmental abnormalities, including intellectual disability, delayed growth, and facial dysmorphism.  Read More

1q44 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the long arm of chromosome 1. It is characterized by intellectual disability, developmental delay, and a variety of physical features. Other features may include seizures, hypotonia, facial dysmorphism, and hearing loss.  Read More

2-Aminoadipic 2-oxoadipic aciduria is an inherited disorder caused by a deficiency of the enzyme 2-aminoadipic acid oxidase. This enzyme is responsible for breaking down the amino acid 2-aminoadipic acid, which is found in proteins. Without this enzyme, 2-aminoadipic acid builds up in the body and is excreted in the urine, leading to a condition known as 2-aminoadipic 2-oxoadipic aciduria. Symptoms of this disorder can include intellectual dis  Read More

2-Methylbutyryl-CoA dehydrogenase deficiency is an inherited disorder that affects the body's ability to break down certain amino acids. It is caused by a deficiency in the enzyme 2-methylbutyryl-CoA dehydrogenase, which is responsible for breaking down the amino acid leucine. People with this disorder may experience a variety of symptoms, including poor feeding, vomiting, seizures, and developmental delays. Treatment typically involves dietar  Read More

20p12.3 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the short arm of chromosome 20. It is characterized by a wide range of physical and developmental features, including intellectual disability, delayed development, speech and language delays, and physical abnormalities.  Read More

20p13 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the short arm of chromosome 20. It is characterized by a wide range of physical and developmental abnormalities, including intellectual disability, delayed growth, and facial abnormalities. Other features may include heart defects, hearing loss, and kidney abnormalities.  Read More

20q11.2 microdeletion syndrome is a genetic disorder caused by the deletion of a small piece of chromosome 20. It is a rare disorder that can cause a wide range of physical and developmental problems, including heart defects, cleft palate, learning disabilities, and behavioral problems.  Read More

20q11.2 microduplication syndrome is a rare genetic disorder caused by an extra copy of genetic material on the long arm (q) of chromosome 20. It is characterized by a wide range of physical and developmental features, including intellectual disability, delayed speech and language development, and behavioral problems. Other features may include heart defects, facial differences, and skeletal abnormalities.  Read More

20q13.33 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the long arm of chromosome 20. It is characterized by a wide range of physical and developmental features, including intellectual disability, delayed growth, and facial abnormalities. Other features may include heart defects, hearing loss, and kidney abnormalities.  Read More

21q22.11q22.12 microdeletion syndrome is a rare genetic disorder caused by the deletion of a small piece of genetic material from chromosome 21. It is characterized by a wide range of physical and developmental abnormalities, including intellectual disability, delayed growth, and facial abnormalities. Other features may include heart defects, hearing loss, and kidney problems.  Read More

22q11.2 deletion syndrome, also known as DiGeorge syndrome or velocardiofacial syndrome, is a genetic disorder caused by the deletion of a small piece of chromosome 22. It is the most common microdeletion syndrome, occurring in 1 in 4000 births. Symptoms can vary widely, but may include heart defects, cleft palate, immune system problems, learning disabilities, and speech and language delays.  Read More

22q11.2 duplication syndrome is a genetic disorder caused by an extra copy of a small piece of chromosome 22. It is also known as DiGeorge syndrome or velocardiofacial syndrome. Symptoms of this disorder can vary widely, but may include heart defects, cleft palate, learning disabilities, and immune system problems.  Read More

2p13.2 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the short arm of chromosome 2. It is characterized by intellectual disability, developmental delay, and a variety of physical features. Other features may include seizures, autism spectrum disorder, and/or congenital heart defects.  Read More

2p15p16.1 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material from a specific region of chromosome 2. It is characterized by intellectual disability, developmental delay, and a variety of physical features. Common features include low birth weight, short stature, facial dysmorphism, and congenital heart defects. Other features may include seizures, hearing loss, and vision problems.  Read More

2p21 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the short arm of chromosome 2. It is characterized by a wide range of physical and developmental abnormalities, including intellectual disability, delayed development, and physical malformations.  Read More

2p21 microdeletion syndrome without cystinuria is a rare genetic disorder caused by a deletion of genetic material on the short arm of chromosome 2. It is characterized by intellectual disability, developmental delay, and a variety of physical features including facial dysmorphism, short stature, and cardiac and skeletal abnormalities.  Read More

2q23.1 microdeletion syndrome is a rare genetic disorder caused by the deletion of a small piece of chromosome 2. It is characterized by a wide range of physical and developmental features, including intellectual disability, delayed development, speech and language delays, and behavioral problems. Other features may include seizures, heart defects, and facial differences.  Read More

2q23.1 microduplication syndrome is a rare genetic disorder caused by a small duplication of genetic material on the long arm of chromosome 2. It is characterized by a wide range of physical and developmental features, including intellectual disability, delayed speech and language development, hypotonia, and behavioral problems.  Read More

2q24 microdeletion syndrome is a rare genetic disorder caused by a small deletion of genetic material on the long arm of chromosome 2. It is characterized by a wide range of physical and developmental features, including intellectual disability, delayed development, speech and language delays, and behavioral problems.  Read More

2q31.1 microdeletion syndrome is a rare genetic disorder caused by the deletion of a small piece of genetic material from a specific location on chromosome 2. It is characterized by a wide range of physical and developmental features, including intellectual disability, delayed development, speech and language delays, and behavioral problems.  Read More

2q32q33 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the long arm of chromosome 2. It is characterized by intellectual disability, developmental delay, and a variety of physical features. Other features may include seizures, autism spectrum disorder, and heart defects.  Read More

2q37 microdeletion syndrome is a rare genetic disorder caused by a missing piece of genetic material on the long arm of chromosome 2. It is characterized by a wide range of physical and developmental features, including intellectual disability, delayed growth, and facial abnormalities. Other features may include heart defects, hearing loss, and seizures.  Read More

3-hydroxy-3-methylglutaric aciduria (3-HMG) is an inherited metabolic disorder caused by a deficiency of the enzyme 3-hydroxy-3-methylglutaryl-CoA lyase (HMGCL). This enzyme is responsible for breaking down certain amino acids and fatty acids in the body. Without it, these substances build up in the body and can cause a variety of symptoms, including seizures, developmental delays, and muscle weakness.  Read More

3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare genetic disorder caused by a deficiency of the enzyme 3-hydroxy-3-methylglutaryl-CoA synthase. This enzyme is involved in the production of cholesterol and other lipids in the body. People with this disorder have abnormally low levels of cholesterol and other lipids in their blood, which can lead to a variety of health problems. Symptoms of HMG-CoA synth  Read More

3-hydroxyisobutyric aciduria is an inherited metabolic disorder caused by a deficiency of the enzyme 3-hydroxyisobutyryl-CoA hydrolase. This enzyme is responsible for breaking down 3-hydroxyisobutyric acid, a byproduct of the metabolism of certain amino acids. People with this disorder are unable to break down this acid, leading to a buildup of it in the body. Symptoms of 3-hydroxyisobutyric aciduria can include seizures, developmental delays,  Read More

3-Methylcrotonyl-CoA carboxylase deficiency is an inherited disorder that affects the body's ability to break down certain proteins. It is caused by a deficiency of the enzyme 3-methylcrotonyl-CoA carboxylase, which is responsible for the breakdown of the amino acid leucine. People with this disorder may experience a variety of symptoms, including poor growth, intellectual disability, seizures, and movement disorders.  Read More

3-Methylglutaconic aciduria type 1 (3-MGA type 1) is an inherited metabolic disorder caused by a deficiency of the enzyme 3-methylglutaconyl-CoA hydratase. This enzyme is involved in the breakdown of certain fatty acids and amino acids. People with 3-MGA type 1 have an accumulation of 3-methylglutaconic acid in their urine, which can lead to a variety of symptoms, including developmental delay, seizures, and movement disorders.  Read More

3-Methylglutaconic aciduria type 3 is a rare inherited metabolic disorder caused by a deficiency of the enzyme 3-methylglutaconyl-CoA hydratase. This enzyme is involved in the breakdown of certain fatty acids and amino acids. People with this disorder have an accumulation of 3-methylglutaconic acid in their urine, which can lead to a variety of symptoms including developmental delay, seizures, and movement disorders.  Read More

3-Methylglutaconic aciduria type 4 is a rare inherited metabolic disorder caused by a deficiency of the enzyme 3-methylglutaconyl-CoA hydratase. This enzyme is involved in the breakdown of certain fatty acids and amino acids. People with this disorder experience a wide range of symptoms, including developmental delay, seizures, muscle weakness, and vision and hearing problems.  Read More

3-Methylglutaconic aciduria type 7 (3-MGA type 7) is a rare inherited metabolic disorder caused by a deficiency of the enzyme 3-methylglutaconyl-CoA hydratase (MGCA7). This enzyme is involved in the breakdown of certain fatty acids and amino acids. People with 3-MGA type 7 have an accumulation of 3-methylglutaconic acid in their body, which can lead to a variety of symptoms including developmental delay, seizures, and movement disorders.  Read More

3-Methylglutaconic aciduria type 8 (3-MGA type 8) is a rare inherited metabolic disorder caused by a deficiency of the enzyme 3-methylglutaconyl-CoA hydratase (MGCAH). This enzyme is involved in the breakdown of certain fatty acids and amino acids. People with 3-MGA type 8 have an accumulation of 3-methylglutaconic acid in their body, which can lead to a variety of symptoms, including developmental delay, seizures, and movement disorders.  Read More

3-Methylglutaconic aciduria type 9 (3-MGA type 9) is a rare inherited metabolic disorder caused by a deficiency of the enzyme 3-methylglutaconyl-CoA hydratase (MGCAH). This enzyme is involved in the breakdown of certain fatty acids and amino acids. People with 3-MGA type 9 have an accumulation of 3-methylglutaconic acid in their body, which can lead to a variety of symptoms, including developmental delay, seizures, and movement disorders.  Read More

3C syndrome is a rare genetic disorder caused by a mutation in the NSD1 gene. It is characterized by craniofacial abnormalities, cardiac defects, and cognitive impairment. Symptoms may include a wide-set eyes, a small jaw, a cleft palate, and heart defects. Other features may include developmental delays, intellectual disability, and seizures.  Read More

3M syndrome is a rare genetic disorder characterized by short stature, skeletal abnormalities, and facial dysmorphism. It is caused by a mutation in the gene encoding the protein filamin A. Symptoms may include short stature, joint laxity, scoliosis, facial dysmorphism, and intellectual disability.  Read More

3MC syndrome is a rare genetic disorder that affects the development of multiple body systems. It is characterized by malformations of the head and face, skeletal abnormalities, and intellectual disability. It is caused by a mutation in the gene that codes for the protein SETBP1.  Read More

3p25.3 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the short arm of chromosome 3. It is characterized by intellectual disability, developmental delay, and a variety of physical features. Other features may include seizures, hearing loss, vision problems, and heart defects.  Read More

3q13 microdeletion syndrome is a rare genetic disorder caused by a small deletion of genetic material on the long arm of chromosome 3. It is characterized by a variety of physical and developmental abnormalities, including intellectual disability, delayed motor development, and facial dysmorphism. Other features may include seizures, hearing loss, and heart defects.  Read More

3q26 microduplication syndrome is a rare genetic disorder caused by a small duplication of genetic material on the long arm of chromosome 3. It is characterized by a variety of physical and developmental features, including intellectual disability, delayed speech and language development, and behavioral problems. Other features may include seizures, hypotonia, and facial dysmorphism.  Read More

3q26q27 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the long arm of chromosome 3. It is characterized by intellectual disability, developmental delays, and physical abnormalities. Symptoms can vary from person to person, but may include speech and language delays, low muscle tone, seizures, and heart defects.  Read More

3q27.3 microdeletion syndrome is a rare genetic disorder caused by the deletion of a small piece of genetic material from a specific region of chromosome 3. It is characterized by intellectual disability, developmental delays, and physical abnormalities. Symptoms can vary from person to person, but may include speech and language delays, hypotonia, seizures, and facial dysmorphism.  Read More

3q29 microdeletion syndrome is a rare genetic disorder caused by a small deletion of genetic material on the long arm of chromosome 3. It is characterized by intellectual disability, developmental delays, speech and language delays, and behavioral problems. Other features may include seizures, autism spectrum disorder, and physical abnormalities.  Read More

3q29 microduplication syndrome is a rare genetic disorder caused by a small duplication of genetic material on the long arm of chromosome 3. It is characterized by intellectual disability, developmental delays, and behavioral problems. Other features may include seizures, autism spectrum disorder, and physical abnormalities.  Read More

Mixed gonadal dysgenesis (MGD) is a rare disorder of sexual development in which a person has both ovarian and testicular tissue. It is also known as 45,X/46,XY mosaicism. People with MGD have a single X chromosome and a single Y chromosome, but the cells in their body are not all the same. Some cells have two X chromosomes (46,XX) and some cells have one X and one Y chromosome (46,XY). This can lead to a variety of physical and reproductive i  Read More

46,XX disorder of sex development-anorectal anomalies syndrome is a rare genetic disorder that affects the development of the reproductive organs and the anus. It is caused by a mutation in the SRY gene, which is responsible for the development of male sex characteristics. Symptoms of this disorder include ambiguous genitalia, anorectal malformations, and a variety of other physical and developmental abnormalities. Treatment typically involves  Read More

46,XX disorder of sex development-skeletal anomalies syndrome is a rare genetic disorder that affects the development of the reproductive system and skeletal system. It is caused by a mutation in the SRY gene, which is responsible for the development of male characteristics. Symptoms of this disorder include ambiguous genitalia, skeletal abnormalities, and infertility.  Read More

46,XX ovarian dysgenesis-short stature syndrome is a rare genetic disorder that affects the development of the reproductive system in females. It is characterized by the absence of ovaries, short stature, and other physical abnormalities. It is caused by a mutation in the SRY gene, which is responsible for the development of male reproductive organs.  Read More

46,XX ovotesticular disorder of sex development (46,XX DSD) is a rare condition in which a person has both ovarian and testicular tissue. People with this condition typically have external genitalia that do not look clearly male or female (ambiguous genitalia). They may also have chromosomal and hormonal differences. Treatment typically involves a combination of surgery, hormone therapy, and psychological support.  Read More

46,XX testicular disorder of sex development (46,XX DSD) is a rare condition in which a person with two X chromosomes in each cell has male physical characteristics. It is caused by a genetic mutation that results in the body producing hormones normally associated with male development. People with 46,XX DSD may have male genitalia, but their internal reproductive organs are female. They may also have other physical characteristics that are no  Read More

46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency is a rare genetic disorder caused by a mutation in the HSD17B3 gene. This gene is responsible for producing an enzyme called 17-beta-hydroxysteroid dehydrogenase 3, which is involved in the production of sex hormones. When this enzyme is deficient, it can lead to a variety of physical and hormonal abnormalities, including ambiguous genitalia, infertility  Read More

46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency is a genetic condition that affects sexual development. It is caused by a mutation in the SRD5A2 gene, which encodes the enzyme 5-alpha-reductase 2. This enzyme is responsible for converting testosterone to dihydrotestosterone (DHT), which is necessary for the normal development of male sex organs. Without this enzyme, male sex organs do not develop normally, resulting in  Read More

46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare genetic disorder caused by a mutation in the CYP17A1 gene. This gene is responsible for producing the enzyme 17,20-lyase, which is involved in the production of sex hormones. Without this enzyme, the body is unable to produce the hormones necessary for normal sexual development. This can lead to a variety of physical and psychological symptoms, including ambiguo  Read More

46,XY disorder of sex development due to testicular 17,20-desmolase deficiency is a rare genetic disorder caused by a mutation in the CYP17A1 gene. This gene is responsible for producing the enzyme 17,20-desmolase, which is necessary for the production of testosterone. Without this enzyme, the body is unable to produce enough testosterone, resulting in a variety of physical and psychological symptoms. Symptoms may include ambiguous genitalia,  Read More

46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency is a rare genetic disorder caused by a mutation in the CYP11A1 gene. This gene is responsible for the production of an enzyme called cytochrome P450, which is involved in the production of hormones in the adrenal glands. People with this disorder have a deficiency in the production of hormones, such as cortisol and aldosterone, which can lead to a variety of symp  Read More

46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome is a rare genetic disorder characterized by the absence of functional gonads in males, along with motor and sensory neuropathy. Symptoms may include infertility, delayed puberty, and muscle weakness. Other features may include hearing loss, vision problems, and intellectual disability. Treatment typically involves hormone replacement therapy and genetic counseling.  Read More

46,XY ovotesticular disorder of sex development (46,XY DSD) is a rare condition in which an individual has both ovarian and testicular tissue. This condition is also known as ovotesticular disorder of sex development, true hermaphroditism, or 46,XY complete gonadal dysgenesis. People with this condition may have ambiguous genitalia, which means that the external genitals may not look clearly male or female. They may also have reproductive orga  Read More

47,XYY syndrome is a chromosomal disorder that occurs when a male has an extra Y chromosome. It is a rare condition, occurring in only 1 in 1,000 live male births. Symptoms may include tall stature, learning disabilities, and behavioral problems.  Read More

48,XXXY syndrome is a rare chromosomal disorder caused by the presence of an extra X chromosome in each of a male's cells. It is also known as triplo-X syndrome or trisomy X. Symptoms of 48,XXXY syndrome can include delayed physical and mental development, learning disabilities, speech and language delays, and behavioral problems.  Read More

48,XXYY syndrome is a rare genetic disorder caused by the presence of an extra copy of both sex chromosomes in each of a male's cells (48,XXYY). It is characterized by tall stature, learning disabilities, and infertility. Symptoms may also include delayed development, behavioral problems, and speech and language delays.  Read More

48,XYYY syndrome is a rare chromosomal disorder caused by the presence of an extra Y chromosome in each of a male's cells. It is also known as Jacobs syndrome, XYY karyotype, or YY syndrome. Symptoms of 48,XYYY syndrome may include tall stature, learning disabilities, and behavioral problems.  Read More

49,XXXXY syndrome is a rare chromosomal disorder caused by the presence of an extra X chromosome in each of a male's cells. It is a form of XYY syndrome, which is caused by the presence of an extra Y chromosome in each of a male's cells. Symptoms of 49,XXXXY syndrome can include delayed development, intellectual disability, and physical abnormalities such as low muscle tone, small testicles, and a curved spine.  Read More

49,XXXYY syndrome is a rare chromosomal disorder caused by the presence of an extra X and Y chromosome. It is a form of sex chromosome aneuploidy, which means that the individual has an abnormal number of sex chromosomes. Symptoms of this disorder can include developmental delays, intellectual disability, and physical abnormalities.  Read More

49,XYYYY syndrome is a rare chromosomal disorder caused by the presence of an extra Y chromosome in each of a male's cells. It is a form of sex chromosome aneuploidy, and is typically characterized by tall stature, learning disabilities, and behavioral problems.  Read More

4H leukodystrophy is a rare genetic disorder that affects the central nervous system. It is caused by a mutation in the POLR3A gene, which is responsible for the production of a protein called 4H leukodystrophy protein. Symptoms of 4H leukodystrophy include developmental delays, seizures, vision and hearing loss, and movement problems. There is currently no cure for 4H leukodystrophy, but treatments are available to help manage symptoms.  Read More

4p16.3 microduplication syndrome is a rare genetic disorder caused by a small duplication of genetic material on the short arm of chromosome 4. It is characterized by a wide range of physical and developmental features, including intellectual disability, delayed speech and language development, hypotonia, and behavioral problems.  Read More

4q21 microdeletion syndrome is a rare genetic disorder caused by the deletion of a small piece of genetic material from a specific region of chromosome 4. It is characterized by a wide range of physical and developmental abnormalities, including intellectual disability, delayed development, and physical abnormalities such as heart defects, facial dysmorphism, and skeletal malformations.  Read More

4q25 proximal deletion syndrome is a rare genetic disorder caused by a deletion of genetic material from a specific region of chromosome 4. It is characterized by intellectual disability, developmental delays, and physical abnormalities. Other symptoms may include seizures, hearing loss, vision problems, and heart defects.  Read More

5-Fluorouracil (5-FU) poisoning is a type of poisoning caused by an overdose of the chemotherapy drug 5-fluorouracil. Symptoms of 5-FU poisoning can include nausea, vomiting, abdominal pain, confusion, and seizures. In severe cases, 5-FU poisoning can lead to coma and death. Treatment for 5-FU poisoning typically involves supportive care and the administration of medications to reduce the effects of the drug.  Read More

5-oxoprolinase deficiency is a rare genetic disorder caused by a deficiency of the enzyme 5-oxoprolinase. This enzyme is responsible for breaking down the amino acid glutamate, which is found in many foods. People with this disorder are unable to break down glutamate, leading to a buildup of the amino acid in the body. Symptoms of 5-oxoprolinase deficiency can include seizures, developmental delays, and intellectual disability. Treatment typic  Read More

5p13 microduplication syndrome is a rare genetic disorder caused by a small duplication of genetic material on the short arm of chromosome 5. It is characterized by a variety of physical and developmental features, including intellectual disability, delayed speech and language development, and behavioral problems. Other features may include hypotonia, seizures, and facial dysmorphism.  Read More

5q14.3 microdeletion syndrome is a rare genetic disorder caused by a deletion of a small piece of genetic material on the long arm of chromosome 5. It is characterized by intellectual disability, developmental delays, and physical abnormalities. Symptoms can vary from person to person, but may include delayed speech and language development, hypotonia, seizures, and facial dysmorphism.  Read More

5q35 microduplication syndrome is a rare genetic disorder caused by a small duplication of genetic material on the long arm (q) of chromosome 5. It is characterized by a wide range of physical and developmental features, including intellectual disability, delayed development, and physical abnormalities. Other features may include seizures, autism spectrum disorder, and behavioral problems.  Read More

6-phosphogluconate dehydrogenase deficiency is an inherited disorder caused by a mutation in the G6PD gene. This gene provides instructions for making an enzyme called glucose-6-phosphate dehydrogenase (G6PD). This enzyme helps protect red blood cells from damage. People with this disorder have an abnormally low level of G6PD, which can lead to a condition called hemolytic anemia. Symptoms of this disorder can include jaundice, fatigue, dark u  Read More

6p22 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the short arm of chromosome 6. It is characterized by a wide range of physical and developmental features, including intellectual disability, delayed development, and physical abnormalities. Other features may include seizures, autism spectrum disorder, and behavioral problems.  Read More

6q terminal deletion syndrome is a rare genetic disorder caused by a deletion of genetic material from the long arm (q) of chromosome 6. It is characterized by a wide range of physical and developmental abnormalities, including intellectual disability, growth delays, facial abnormalities, and heart defects.  Read More

6q16 microdeletion syndrome is a rare genetic disorder caused by the deletion of a small piece of genetic material from the long arm of chromosome 6. It is characterized by a variety of physical and developmental abnormalities, including intellectual disability, delayed growth, and facial dysmorphism. Other features may include hearing loss, heart defects, and kidney abnormalities.  Read More

6q25 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the long arm (q) of chromosome 6. It is characterized by a wide range of physical and developmental features, including intellectual disability, delayed development, and physical abnormalities. Other features may include seizures, autism spectrum disorder, and behavioral problems.  Read More

7p22.1 microduplication syndrome is a rare genetic disorder caused by a small duplication of genetic material on the short arm of chromosome 7. It is characterized by a variety of physical and developmental features, including intellectual disability, delayed speech and language development, hypotonia, and facial dysmorphism.  Read More

7q11.23 microduplication syndrome is a rare genetic disorder caused by a small duplication of genetic material on the long arm of chromosome 7. It is characterized by a wide range of physical and developmental features, including intellectual disability, speech and language delays, autism spectrum disorder, attention deficit hyperactivity disorder, and behavioral problems.  Read More

7q31 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the long arm (q) of chromosome 7. It is characterized by a variety of physical and developmental abnormalities, including intellectual disability, delayed growth, and facial dysmorphism. Other features may include heart defects, hearing loss, and seizures. Treatment is based on the individual's symptoms and may include physical, occupational, and  Read More

8p inverted duplication/deletion syndrome is a rare genetic disorder caused by a chromosomal abnormality. It is caused by a rearrangement of genetic material on the short arm of chromosome 8, resulting in an inverted duplication or deletion of genetic material. Symptoms of this disorder can vary widely, but may include intellectual disability, developmental delays, speech and language delays, and physical abnormalities.  Read More

8p11.2 deletion syndrome is a rare genetic disorder caused by a deletion of genetic material from a specific region of chromosome 8. It is characterized by a variety of physical and developmental abnormalities, including intellectual disability, delayed growth, and facial abnormalities. Other features may include heart defects, hearing loss, and kidney abnormalities.  Read More

8p23.1 duplication syndrome is a rare genetic disorder caused by a duplication of a small section of chromosome 8. It is characterized by a variety of physical and developmental abnormalities, including intellectual disability, delayed development, and physical features such as a wide forehead, low-set ears, and a short nose. Other features may include heart defects, kidney abnormalities, and seizures. Treatment is based on the individual's sy  Read More

8p23.1 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the short arm of chromosome 8. It is characterized by a wide range of physical and developmental features, including intellectual disability, delayed growth, and facial abnormalities. Other features may include heart defects, hearing loss, and kidney abnormalities.  Read More

8q12 microduplication syndrome is a rare genetic disorder caused by a small duplication of genetic material on the long arm of chromosome 8. It is characterized by a wide range of physical and developmental features, including intellectual disability, delayed development, and physical abnormalities. Other features may include autism spectrum disorder, seizures, and heart defects.  Read More

8q21.11 microdeletion syndrome is a rare genetic disorder caused by the deletion of a small piece of genetic material from a specific location on chromosome 8. It is characterized by intellectual disability, developmental delay, and a variety of physical features. Other features may include seizures, autism spectrum disorder, and/or congenital heart defects.  Read More

8q22.1 microdeletion syndrome is a rare genetic disorder caused by the deletion of a small piece of genetic material from a specific location on the long arm of chromosome 8. It is characterized by a variety of physical and developmental abnormalities, including intellectual disability, facial dysmorphism, and skeletal and cardiac malformations.  Read More

8q24.3 microdeletion syndrome is a rare genetic disorder caused by the deletion of a small piece of genetic material from a specific region of chromosome 8. It is characterized by a wide range of physical and developmental abnormalities, including intellectual disability, facial dysmorphism, and congenital heart defects.  Read More

9p13 microdeletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the short arm of chromosome 9. It is characterized by intellectual disability, developmental delays, and physical abnormalities. Common features include low muscle tone, facial dysmorphism, and heart defects. Other features may include seizures, hearing loss, and vision problems.  Read More

9q21.13 microdeletion syndrome is a rare genetic disorder caused by the deletion of a small piece of genetic material from a specific region of chromosome 9. It is characterized by intellectual disability, developmental delay, and a variety of physical features. Other features may include seizures, autism spectrum disorder, and/or congenital heart defects.  Read More

9q31.1q31.3 microdeletion syndrome is a rare genetic disorder caused by the deletion of a small piece of genetic material from the long arm of chromosome 9. It is characterized by intellectual disability, developmental delay, and a variety of physical features. Other features may include seizures, autism spectrum disorder, and/or congenital heart defects.  Read More

9q33.3q34.11 microdeletion syndrome is a rare genetic disorder caused by the deletion of a small piece of genetic material from the long arm of chromosome 9. It is characterized by intellectual disability, developmental delay, and a variety of physical features. Other features may include seizures, autism spectrum disorder, and/or congenital heart defects.  Read More

AA amyloidosis is a rare type of amyloidosis caused by the buildup of abnormal proteins called amyloid A (AA) in the body's organs and tissues. It is a systemic disorder, meaning it can affect multiple organs and systems in the body. AA amyloidosis is caused by long-term inflammation, such as rheumatoid arthritis, and is more common in people of African descent. Symptoms of AA amyloidosis can include fatigue, weight loss, anemia, and organ fai  Read More

AApoAIV amyloidosis is a rare, inherited form of amyloidosis caused by a mutation in the apolipoprotein A-IV gene. It is characterized by the buildup of amyloid deposits in the heart, kidneys, and other organs, leading to organ dysfunction and failure. Symptoms may include fatigue, shortness of breath, swelling in the legs and abdomen, and an irregular heartbeat. Treatment typically involves medications to reduce the amount of amyloid deposits  Read More

Aarskog Syndrome, also known as Aarskog-Scott Syndrome, is a rare genetic disorder that affects physical and mental development. It is caused by a mutation in the X-chromosome and is characterized by short stature, facial abnormalities, skeletal malformations, and mild to moderate intellectual disability. Other symptoms may include joint laxity, scoliosis, and heart defects. Treatment typically involves physical and occupational therapy, speec  Read More

Aase-Smith syndrome is a rare genetic disorder that affects the development of the bones, muscles, and other tissues. It is characterized by skeletal abnormalities, including short stature, joint contractures, and scoliosis, as well as facial abnormalities, including a broad nasal bridge, low-set ears, and a small lower jaw. Other features may include hearing loss, heart defects, and intellectual disability. The condition is caused by mutation  Read More

ABeta amyloidosis, Arctic type is a rare, inherited form of amyloidosis caused by a mutation in the TTR gene. It is characterized by the buildup of amyloid deposits in the heart, kidneys, and other organs. Symptoms of Arctic type ABeta amyloidosis include heart failure, kidney failure, peripheral neuropathy, and carpal tunnel syndrome. Treatment options include medications, lifestyle changes, and organ transplantation.  Read More

ABeta amyloidosis, Dutch type is a rare genetic disorder caused by a mutation in the TTR gene. It is characterized by the accumulation of amyloid deposits in the heart, kidneys, and other organs. Symptoms may include heart failure, kidney failure, peripheral neuropathy, and carpal tunnel syndrome. Treatment typically involves medications to reduce the amount of amyloid deposits in the body, as well as lifestyle changes to reduce the risk of co  Read More

ABeta amyloidosis, Iowa type is a rare, inherited form of amyloidosis caused by a mutation in the TTR gene. It is characterized by the buildup of abnormal proteins called amyloid in the body's organs and tissues. Symptoms of ABeta amyloidosis, Iowa type can include fatigue, weight loss, anemia, and heart problems. Treatment options for this condition include medications, lifestyle changes, and organ transplantation.  Read More

ABeta amyloidosis, Italian type is a rare, inherited disorder caused by a mutation in the TTR gene. It is characterized by the accumulation of amyloid deposits in the heart, kidneys, and other organs. Symptoms may include heart failure, kidney failure, peripheral neuropathy, and carpal tunnel syndrome. Treatment typically involves medications to reduce the amount of amyloid deposits in the body, as well as lifestyle changes to reduce the risk  Read More

ABetaA21G amyloidosis is a rare, inherited disorder caused by a mutation in the APP gene. It is characterized by the accumulation of amyloid proteins in the body, which can lead to organ damage and other serious health problems. Symptoms of ABetaA21G amyloidosis can include fatigue, weight loss, anemia, and heart problems. Treatment typically involves medications to reduce the amount of amyloid proteins in the body, as well as lifestyle change  Read More

ABetaL34V amyloidosis is a rare, inherited form of amyloidosis caused by a mutation in the gene that codes for the protein beta-2-microglobulin. This mutation results in the production of an abnormal form of the protein, which accumulates in the body and can cause a range of symptoms, including kidney failure, heart failure, and peripheral neuropathy.  Read More

Abetalipoproteinemia (ABL) is a rare inherited disorder that affects the body's ability to absorb dietary fat and fat-soluble vitamins. It is caused by a mutation in the gene that codes for the protein apolipoprotein B (ApoB). People with ABL have very low levels of ApoB, which results in the inability to absorb dietary fat and fat-soluble vitamins. Symptoms of ABL include poor growth, fat malabsorption, and neurological problems. Treatment ty  Read More

Ablepharon macrostomia syndrome (AMS) is a rare genetic disorder characterized by the absence of eyelids (ablepharon) and a wide mouth (macrostomia). Other features of the disorder may include a cleft lip and/or palate, low-set ears, and a small head size. Affected individuals may also have intellectual disability, developmental delays, and/or vision and hearing problems.  Read More

Ablepharon-Macrostomia Syndrome (AMS) is a rare genetic disorder characterized by the absence of eyelids (ablepharon) and a large mouth (macrostomia). Other features of the disorder may include a wide nasal bridge, low-set ears, and a cleft lip or palate. Affected individuals may also have intellectual disability, developmental delay, and/or seizures. There is no cure for AMS, but treatment is available to manage the symptoms.  Read More

Abnormal number of coronary ostia is a condition in which there are more or fewer than the normal two coronary ostia (the openings of the coronary arteries) present in the heart. This condition can be caused by a congenital defect or by a disease or injury.  Read More

Abnormal origin of right or left pulmonary artery from the aorta is a congenital heart defect in which the pulmonary artery arises from the aorta instead of the pulmonary trunk. This defect can cause a variety of symptoms, including shortness of breath, fatigue, and chest pain. Treatment typically involves corrective surgery.  Read More

ABri amyloidosis is a rare, progressive, and fatal neurodegenerative disorder caused by the accumulation of amyloid-beta (Aβ) peptides in the brain. It is characterized by the formation of amyloid plaques in the brain, which can lead to cognitive decline, dementia, and eventually death.  Read More

Abruzzo-Erickson syndrome is a rare genetic disorder characterized by intellectual disability, seizures, and facial abnormalities. It is caused by a mutation in the ARX gene, which is responsible for the development of the brain and other organs. Symptoms of the disorder can vary from person to person, but may include delayed development, intellectual disability, seizures, facial abnormalities, and behavioral problems.  Read More

Absence deformity of leg-cataract syndrome is a rare genetic disorder characterized by the absence of the lower leg bones, cataracts, and other eye abnormalities. It is caused by a mutation in the gene that codes for the protein filamin A. This disorder is inherited in an autosomal recessive pattern, meaning that both copies of the gene must be mutated for a person to be affected. Symptoms may include short stature, joint contractures, and vis  Read More

Absence of fingerprints-congenital milia syndrome is a rare genetic disorder characterized by the absence of fingerprints and the presence of milia, which are small white cysts on the skin. People with this disorder may also have other skin abnormalities, such as dry skin, thickened skin, and abnormal pigmentation. The cause of this disorder is unknown, but it is believed to be inherited in an autosomal recessive pattern.  Read More

Absence of the innominate vein is a rare congenital anomaly in which the right brachiocephalic vein (innominate vein) is absent. This anomaly is usually asymptomatic and is usually discovered incidentally during imaging studies. Treatment is usually not necessary, but if the anomaly is causing symptoms, then surgical correction may be necessary.  Read More

Absence of the pulmonary artery is a rare congenital heart defect in which the pulmonary artery, which carries deoxygenated blood from the right ventricle to the lungs, is missing or underdeveloped. This condition can lead to a variety of complications, including pulmonary hypertension, right ventricular failure, and even death. Treatment typically involves surgical reconstruction of the pulmonary artery, as well as medications to manage sympt  Read More

Absence of uterine body is a rare congenital malformation in which the uterus is completely absent. This condition is also known as uterine agenesis or Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. It is usually diagnosed during adolescence when a girl does not begin to menstruate. Women with this condition are usually infertile, but can still have a successful pregnancy through in vitro fertilization.  Read More

Absent radius-anogenital anomalies syndrome is a rare genetic disorder characterized by the absence of the radius bone in the forearm, as well as malformations of the genitals and urinary tract. Other features of the disorder may include short stature, webbed fingers, and cleft palate. The exact cause of the disorder is unknown, but it is believed to be inherited in an autosomal recessive pattern. Treatment is based on the individual's symptom  Read More

Absent thumb-short stature-immunodeficiency syndrome (ATSIS) is a rare genetic disorder characterized by the absence of the thumb, short stature, and immunodeficiency. It is caused by a mutation in the gene encoding the transcription factor FOXP2. Symptoms of ATSIS include short stature, absent thumb, immunodeficiency, and developmental delay. Treatment typically involves physical and occupational therapy, as well as immunoglobulin replacement  Read More

Absent tibia-polydactyly-arachnoid cyst syndrome is a rare genetic disorder characterized by the absence of the tibia bone in the lower leg, extra fingers or toes (polydactyly), and the presence of an arachnoid cyst in the brain. It is caused by a mutation in the HOXD13 gene. Symptoms may include limb deformities, intellectual disability, seizures, and vision and hearing problems. Treatment typically involves physical and occupational therapy,  Read More

The main symptom of acalvaria is a skull deformity, which can range from mild to severe. Other symptoms may include: -A flat or sunken area on the top of the head -A bulging forehead -A small head size -A wide or narrow head shape -A wide or narrow face shape -A wide or narrow jaw -A wide or narrow nose -A wide or narrow eye shape -A wide or narrow mouth -A wide or narrow chin  Read More

Acanthocheilonemiasis is a rare parasitic infection caused by the nematode Acanthocheilonema perstans. It is spread by the bite of certain species of mosquitoes and is most commonly found in tropical and subtropical regions. Symptoms of the infection include fever, rash, joint pain, and enlarged lymph nodes. Treatment typically involves a combination of medications and supportive care.  Read More

Acanthokeratolytic verrucous nevus is a rare skin disorder characterized by the presence of wart-like lesions on the skin. These lesions are usually found on the face, neck, and upper trunk and are composed of thickened, scaly skin. They may be present at birth or develop later in life. The cause of this disorder is unknown, but it is thought to be related to genetic factors. Treatment is usually not necessary, but some people may choose to ha  Read More

Acanthosis nigricans is a skin condition characterized by dark, velvety patches of skin that typically appear in body folds and creases, such as the neck, armpits, and groin. It is most commonly associated with insulin resistance and obesity, but can also be caused by certain medications, hormonal disorders, and cancer. Treatment typically involves lifestyle changes and medications to reduce insulin resistance.  Read More

Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome is not a recognized medical condition. Acanthosis nigricans is a skin condition characterized by dark, velvety patches on the skin, usually in the armpits, neck, and groin. Insulin resistance is a condition in which the body does not respond properly to the hormone insulin, leading to high blood sugar levels. Muscle cramps are sudden, involuntary contractions of a  Read More

Acatalasemia is a rare genetic disorder in which the body is unable to produce the enzyme catalase. This enzyme is responsible for breaking down hydrogen peroxide, a byproduct of metabolism, into oxygen and water. Without catalase, hydrogen peroxide builds up in the body, leading to a variety of symptoms, including fatigue, anemia, and skin rashes.  Read More

Accessory mitral valve tissue (AMVT) is a rare congenital heart defect in which an extra piece of tissue is present in the heart, usually near the mitral valve. This extra tissue can interfere with the normal flow of blood through the heart, leading to symptoms such as shortness of breath, fatigue, and palpitations. Treatment for AMVT typically involves surgery to remove the extra tissue.  Read More

Accessory pancreas is a rare congenital anomaly in which an additional, small pancreas is present in the abdomen. It is usually located near the duodenum, the first part of the small intestine. Accessory pancreas is usually asymptomatic and is often discovered incidentally during imaging tests or surgery. Treatment is usually not necessary, but if the accessory pancreas is causing symptoms, it may be surgically removed.  Read More

Accessory tricuspid valve tissue is an abnormal tissue that is found in the heart. It is located in the right atrium, near the tricuspid valve. This tissue is usually made up of fibrous tissue and can cause obstruction of the tricuspid valve, leading to a condition known as tricuspid valve stenosis. Treatment for this condition usually involves surgery to remove the tissue.  Read More

Aceruloplasminemia is a rare genetic disorder that affects the body's ability to metabolize iron. It is caused by a mutation in the ceruloplasmin gene, which is responsible for producing the ceruloplasmin protein. This protein helps the body to store and transport iron, and without it, iron accumulates in the body's tissues and organs, leading to a variety of symptoms. Symptoms of aceruloplasminemia include vision problems, seizures, movement  Read More

Acetazolamide-responsive myotonia is a rare genetic disorder characterized by muscle stiffness and spasms. It is caused by a mutation in the CLCN1 gene, which is responsible for the production of a chloride channel in muscle cells. Symptoms of this disorder include muscle stiffness, cramps, and spasms, which can be triggered by exercise or cold temperatures. Treatment with the drug acetazolamide can help reduce the symptoms of this disorder.  Read More

Achalasia is a rare disorder of the esophagus, the tube that carries food from the throat to the stomach. It is caused by a problem with the nerves and muscles that control swallowing. Symptoms of achalasia include difficulty swallowing, chest pain, regurgitation of food, and weight loss. Treatment options include medications, endoscopic procedures, and surgery.  Read More

Achalasia imaging is a type of imaging used to diagnose achalasia, a disorder of the esophagus. It involves taking X-rays, CT scans, or MRI scans of the esophagus to look for any abnormalities. The images can help doctors diagnose achalasia and determine the best treatment plan.  Read More

Achalasia-microcephaly syndrome is a rare genetic disorder characterized by achalasia, a disorder of the esophagus, and microcephaly, a condition in which the head is abnormally small. Symptoms of the disorder include difficulty swallowing, poor weight gain, and developmental delays. Other features may include seizures, intellectual disability, and vision and hearing problems. Treatment typically involves medications to relax the esophagus and  Read More

Achard Thiers Syndrome is a rare endocrine disorder that affects women. It is characterized by the presence of ovarian cysts, hirsutism (excessive hair growth), and amenorrhea (absence of menstrual periods). It is caused by an excess of androgens (male hormones) in the body, which can lead to infertility. Treatment typically involves hormone replacement therapy and lifestyle changes.  Read More

Acheiria is a rare congenital disorder characterized by the absence of one or both hands. It is caused by a genetic mutation that affects the development of the hands in the womb. People with Acheiria may have difficulty performing everyday tasks, such as writing, eating, and dressing. Treatment options include prosthetic hands, occupational therapy, and adaptive devices.  Read More

Acheiropodia is a rare congenital disorder in which a person is born without hands or feet. It is caused by a genetic mutation and is usually accompanied by other physical abnormalities.  Read More

Achondrogenesis is a rare genetic disorder that affects the development of bones in the body. It is a type of skeletal dysplasia, which is a group of disorders that cause abnormal growth and development of the skeleton. People with achondrogenesis have very short limbs and a small chest, and may have other physical abnormalities. They usually die shortly after birth due to respiratory failure.  Read More

Achondrogenesis type 1A is a rare genetic disorder that affects the development of bones in the body. It is a type of skeletal dysplasia, which is a group of disorders that cause abnormal growth and development of the skeleton. People with this condition typically have short limbs, a narrow chest, and a small head. They may also have breathing problems, feeding difficulties, and other health problems.  Read More

Achondrogenesis type 1B is a rare genetic disorder that affects the development of bones in the body. It is a type of skeletal dysplasia, which is a group of disorders that cause abnormal growth and development of the skeleton. People with this condition typically have short limbs, a narrow chest, and a small head. They may also have breathing problems, feeding difficulties, and other health problems.  Read More

Achondrogenesis type 2 is a rare genetic disorder that affects the development of bones in the body. It is a form of achondrogenesis, a group of disorders that cause abnormal growth of cartilage and bone. People with achondrogenesis type 2 typically have severe skeletal abnormalities, including short limbs, a narrow chest, and a small head. They may also have respiratory problems, feeding difficulties, and other health issues.  Read More

Achondroplasia is a genetic disorder that affects bone growth and is the most common form of dwarfism. People with achondroplasia have short arms and legs, a large head, and a prominent forehead. Other features may include a flattened bridge of the nose, a protruding lower jaw, and bowed legs.  Read More

Achondroplasia imaging is a type of imaging used to diagnose achondroplasia, a genetic disorder that affects bone growth. It involves taking X-rays, CT scans, and MRI scans of the bones and joints to look for signs of the disorder. These images can help doctors diagnose achondroplasia and determine the severity of the condition.  Read More

Acid Sphingomyelinase Deficiency (ASMD) is a rare genetic disorder that affects the body's ability to break down a type of fat called sphingomyelin. This fat is found in cell membranes and is important for normal cell function. People with ASMD have a deficiency of the enzyme acid sphingomyelinase, which is responsible for breaking down sphingomyelin. Without this enzyme, sphingomyelin accumulates in the cells, leading to a variety of symptoms  Read More

Acidemia Isovaleric is an inherited disorder caused by a deficiency of the enzyme isovaleryl-CoA dehydrogenase. This enzyme is responsible for breaking down the amino acid leucine, which is found in many foods. When this enzyme is deficient, leucine builds up in the body and is converted to isovaleric acid, which can cause a variety of symptoms including vomiting, seizures, and coma.  Read More

Acidemia, methylmalonic is an inherited disorder caused by a deficiency of the enzyme methylmalonyl-CoA mutase. This enzyme is responsible for breaking down certain proteins and fats in the body. Without it, these proteins and fats build up in the body and cause a variety of symptoms, including vomiting, poor feeding, lethargy, seizures, and coma. In severe cases, acidemia, methylmalonic can be fatal. Treatment typically involves a combination  Read More

Acitretin/etretinate embryopathy is a rare condition caused by the use of acitretin or etretinate during pregnancy. These medications are used to treat severe psoriasis and other skin conditions. Exposure to these medications during pregnancy can cause a range of birth defects, including heart defects, facial malformations, and central nervous system abnormalities.  Read More

Acoustic neuroma is a noncancerous (benign) tumor that develops on the main nerve leading from the inner ear to the brain. It is also known as a vestibular schwannoma. The tumor grows slowly and can press on the hearing and balance nerves, causing hearing loss, ringing in the ears (tinnitus), and balance problems. Treatment options include surgery, radiation therapy, and observation.  Read More

Acquired aneurysmal subarachnoid hemorrhage (aSAH) is a type of stroke caused by bleeding in the space between the brain and the thin tissues that cover it. It is usually caused by a ruptured aneurysm, a weak or thin spot in a blood vessel in the brain that balloons out and fills with blood. The bleeding can cause severe headaches, confusion, and other neurological symptoms. Treatment typically involves surgery to repair the aneurysm and medic  Read More

Acquired angioedema type 1 (AAT1) is a rare, inherited disorder that causes recurrent episodes of swelling in the face, tongue, and/or throat. It is caused by a deficiency of the C1 esterase inhibitor protein, which is responsible for controlling the activity of certain enzymes in the body. Symptoms of AAT1 can include swelling of the face, tongue, and/or throat, difficulty breathing, and abdominal pain. Treatment typically involves the use of  Read More

Acquired angioedema type 2 (AAE2) is a rare, inherited disorder that causes recurrent episodes of swelling in the face, tongue, and/or throat. It is caused by a deficiency of the C1-esterase inhibitor protein, which is responsible for regulating the activity of certain enzymes in the body. Symptoms of AAE2 can include swelling of the face, tongue, and/or throat, difficulty breathing, and abdominal pain. Treatment typically involves the use of  Read More

Acquired angioedema with C1Inh deficiency is a rare condition in which the body does not produce enough of a protein called C1 inhibitor (C1Inh). This protein helps regulate the body's immune system and is important for controlling inflammation. Without enough of this protein, the body can experience episodes of swelling, known as angioedema, which can affect the face, tongue, throat, and other parts of the body. Treatment for this condition t  Read More

Acquired aplastic anemia is a rare, life-threatening blood disorder in which the body's bone marrow fails to produce enough new blood cells. This can lead to a decrease in red blood cells, white blood cells, and platelets. Symptoms of acquired aplastic anemia include fatigue, shortness of breath, easy bruising, and frequent infections. Treatment for acquired aplastic anemia may include blood transfusions, medications, and bone marrow or stem c  Read More

Acquired central diabetes insipidus is a rare disorder that is caused by damage to the hypothalamus or pituitary gland. It is characterized by excessive thirst and the production of large amounts of dilute urine. People with this condition may experience extreme thirst, frequent urination, dehydration, and electrolyte imbalances. Treatment typically involves hormone replacement therapy and lifestyle modifications.  Read More

Acquired cutis laxa is a rare skin disorder characterized by loose, sagging skin that is caused by a decrease in the amount of elastin, a protein that helps skin maintain its shape and elasticity. It can affect any area of the body, but is most commonly seen on the face, neck, and abdomen. Symptoms may include wrinkles, sagging skin, and stretch marks. Treatment typically involves topical medications and lifestyle changes.  Read More

Acquired cystic disease-associated renal cell carcinoma (ACD-RCC) is a type of kidney cancer that is associated with chronic kidney disease. It is a rare form of renal cell carcinoma (RCC) that is characterized by the presence of multiple cysts in the kidney. ACD-RCC is typically seen in patients with end-stage renal disease (ESRD) who have been on dialysis for a long period of time. It is believed that the cysts form due to the accumulation o  Read More

Acquired factor V deficiency is a rare disorder in which the body does not produce enough of the blood clotting factor V. This can lead to excessive bleeding and bruising. It is usually caused by an underlying medical condition, such as liver disease, or by certain medications. Treatment typically involves replacing the missing factor V with a blood transfusion or medication.  Read More

Acquired factor VII deficiency is a rare bleeding disorder caused by a decrease in the amount of factor VII, a clotting factor in the blood. It is usually caused by an autoimmune disorder, in which the body's immune system mistakenly attacks and destroys the factor VII. Symptoms of acquired factor VII deficiency include excessive bleeding, easy bruising, and prolonged bleeding from cuts or surgery. Treatment typically involves replacement ther  Read More

Acquired factor X deficiency is a rare bleeding disorder caused by a decrease in the activity of factor X, a clotting factor in the blood. It is usually caused by an underlying medical condition, such as liver disease, or by certain medications. Symptoms of acquired factor X deficiency include easy bruising, prolonged bleeding from cuts or injuries, and excessive bleeding during surgery or childbirth. Treatment typically involves replacing the  Read More

Acquired factor XI deficiency is a rare bleeding disorder caused by a decrease in the activity of factor XI, a clotting factor in the blood. It is usually caused by the use of certain medications, such as heparin, or by autoimmune diseases. Symptoms of acquired factor XI deficiency include easy bruising, prolonged bleeding from cuts, and excessive bleeding during surgery or childbirth. Treatment typically involves the use of blood clotting med  Read More

Acquired factor XIII deficiency is a rare bleeding disorder caused by a lack of factor XIII, a protein in the blood that helps the blood to clot. It is usually caused by an autoimmune disorder, in which the body's immune system mistakenly attacks and destroys the factor XIII protein. Symptoms of acquired factor XIII deficiency include excessive bleeding from cuts or injuries, nosebleeds, and heavy menstrual bleeding. Treatment typically involv  Read More

Acquired generalized lipodystrophy (AGL) is a rare disorder characterized by the sudden and progressive loss of fat from the face, arms, legs, and trunk. It is caused by an autoimmune disorder in which the body's own immune system attacks and destroys the fat cells. Symptoms of AGL include thinning of the skin, muscle wasting, and a decrease in the amount of fat in the body. In some cases, AGL can also cause diabetes, high cholesterol, and oth  Read More

Acquired hemophagocytic lymphohistiocytosis (HLH) associated with malignant disease is a rare, life-threatening condition that occurs when the body's immune system becomes overactive and begins to attack healthy cells and tissues. It is most commonly seen in patients with certain types of cancer, such as lymphoma, leukemia, and myeloma. Symptoms of HLH associated with malignant disease include fever, fatigue, enlarged lymph nodes, and an enlar  Read More

Acquired hemophilia is a rare bleeding disorder caused by the body producing antibodies that attack clotting factors in the blood. This results in prolonged bleeding from even minor cuts or injuries. It is most common in older adults, and is more common in women than men. Treatment typically involves the use of steroids and other medications to suppress the immune system and stop the production of antibodies.  Read More

Acquired hemophilia A is a rare bleeding disorder caused by the body producing antibodies that attack and destroy clotting factors in the blood. This results in prolonged bleeding from even minor cuts or injuries. It is most commonly seen in older adults, and is more common in women than men. Treatment typically involves the use of immunosuppressive drugs to reduce the production of antibodies, as well as clotting factor replacement therapy.  Read More

Acquired hemophilia B is a rare bleeding disorder caused by the body producing antibodies that attack clotting factors in the blood. This results in prolonged bleeding and can be life-threatening if not treated. It is most commonly seen in elderly patients, but can occur in any age group. Treatment typically involves the use of immunosuppressive drugs and clotting factor replacement therapy.  Read More

Acquired hypertrichosis lanuginosa is a rare condition characterized by excessive hair growth on the face and body. It is usually caused by an underlying medical condition, such as an endocrine disorder, or by certain medications. The hair growth is usually fine and soft, and may be accompanied by other symptoms, such as skin discoloration or itching. Treatment typically involves addressing the underlying cause, if possible, and managing the s  Read More

Acquired ichthyosis is a rare skin disorder characterized by dry, scaly skin. It is caused by an underlying medical condition, such as an autoimmune disorder, kidney disease, or certain medications. Symptoms may include dry, itchy skin, thickened skin, and dark patches. Treatment typically involves managing the underlying condition and using moisturizers and topical medications to reduce the symptoms.  Read More

Acquired idiopathic sideroblastic anemia (AISA) is a rare type of anemia that is caused by an abnormality in the body's ability to produce red blood cells. It is characterized by the presence of ringed sideroblasts in the bone marrow, which are immature red blood cells that contain iron deposits. Symptoms of AISA include fatigue, weakness, pale skin, and shortness of breath. Treatment typically involves iron supplementation, blood transfusions  Read More

Acquired kinky hair syndrome (AKHS) is a rare condition characterized by the sudden onset of kinky, curly hair. It is usually seen in children and is thought to be caused by an autoimmune disorder. Symptoms may include hair loss, itching, and scalp irritation. Treatment typically involves topical steroids and other medications to reduce inflammation.  Read More

Acquired lipodystrophy is a rare disorder that affects the body's ability to store fat. It is characterized by the loss of fat tissue in certain areas of the body, such as the face, arms, legs, and trunk. This can lead to a variety of physical changes, including thinning of the skin, muscle wasting, and a decrease in overall body fat. In some cases, it can also cause metabolic abnormalities, such as diabetes and high cholesterol. Treatment for  Read More

Acquired methemoglobinemia is a condition in which the level of methemoglobin, a form of hemoglobin, in the blood is abnormally high. Methemoglobin is a form of hemoglobin that is unable to carry oxygen to the body's tissues. Symptoms of acquired methemoglobinemia include fatigue, shortness of breath, headache, dizziness, and blue or gray skin discoloration. The condition can be caused by exposure to certain drugs or chemicals, or by certain i  Read More

Acquired monoclonal Ig light chain-associated Fanconi syndrome is a rare disorder caused by the presence of an abnormal monoclonal immunoglobulin light chain in the body. This abnormal light chain can interfere with the normal functioning of the kidneys, leading to a condition known as Fanconi syndrome. Symptoms of this disorder include excessive urination, electrolyte imbalances, and kidney damage. Treatment typically involves chemotherapy an  Read More

Acquired Neuromyotonia (also known as Isaacs Syndrome) is a rare neurological disorder characterized by muscle stiffness and spasms. It is caused by an autoimmune disorder in which the body's immune system mistakenly attacks the peripheral nervous system. Symptoms may include muscle stiffness, cramps, twitching, and spasms. In some cases, the disorder can also cause fatigue, weakness, and pain. Treatment typically involves medications to reduc  Read More

Acquired partial lipodystrophy (APL) is a rare disorder characterized by the loss of fat tissue from the arms, legs, and face. It is also known as Barraquer-Simons Syndrome. APL is caused by an autoimmune disorder, in which the body's immune system mistakenly attacks and destroys the fat cells in the affected areas. Symptoms of APL include thinning of the skin, muscle wasting, and a decrease in the amount of fat in the affected areas. Treatmen  Read More

Acquired porencephaly is a rare neurological disorder that is caused by a brain injury or stroke. It is characterized by cysts or cavities in the brain that are filled with cerebrospinal fluid. These cysts can cause a variety of neurological symptoms, including seizures, developmental delays, and motor and cognitive impairments.  Read More

Acquired prothrombin deficiency is a rare bleeding disorder caused by a deficiency of the clotting factor prothrombin. It is caused by a decrease in the production of prothrombin, which is a protein involved in the clotting process. Symptoms of acquired prothrombin deficiency include excessive bleeding, easy bruising, and prolonged bleeding from cuts or wounds. Treatment typically involves replacement therapy with prothrombin concentrate or vi  Read More

Acquired pseudoxanthoma elasticum (APXE) is a rare genetic disorder that affects the elastic fibers in the skin, eyes, and cardiovascular system. It is characterized by yellowish papules on the skin, angioid streaks in the eyes, and calcification of the arteries. It is caused by mutations in the ABCC6 gene, which is responsible for producing a protein that helps regulate the metabolism of elastin. Treatment typically involves lifestyle modific  Read More

Acquired purpura fulminans is a rare, life-threatening condition that is characterized by the sudden onset of large, painful, purple-colored skin lesions. It is caused by a severe reaction to an infection, usually with a bacteria or virus, and can lead to tissue death, organ failure, and even death. Treatment typically involves antibiotics, anticoagulants, and supportive care.  Read More

Acquired schizencephaly is a rare neurological disorder that is caused by damage to the brain. It is characterized by abnormal clefts or “slits” in the brain’s cerebral cortex. These clefts can cause a variety of neurological symptoms, including seizures, intellectual disability, motor deficits, and behavioral problems. The cause of acquired schizencephaly is unknown, but it is thought to be caused by a traumatic brain injury, infection,  Read More

Acquired von Willebrand syndrome (AVWS) is a rare bleeding disorder caused by an underlying medical condition, such as cancer, autoimmune disease, or certain medications. It is characterized by a deficiency in von Willebrand factor (VWF), a protein that helps the blood to clot. People with AVWS may experience excessive bleeding from minor cuts or injuries, as well as heavy menstrual bleeding and prolonged bleeding after surgery or dental proce  Read More

Acral peeling skin syndrome (APSS) is a rare genetic disorder characterized by recurrent episodes of peeling of the skin on the palms of the hands and soles of the feet. It is caused by mutations in the TGM5 gene, which is responsible for producing an enzyme called transglutaminase 5. This enzyme is involved in the formation of the skin's outermost layer, the stratum corneum. Symptoms of APSS usually begin in infancy or early childhood and can  Read More

Acral persistent papular mucinosis (APM) is a rare skin disorder characterized by the presence of small, firm, skin-colored papules on the palms and soles. The papules are usually asymptomatic, but may be itchy or tender. The cause of APM is unknown, but it is thought to be an autoimmune disorder. Treatment typically involves topical corticosteroids or calcineurin inhibitors.  Read More

Acral self-healing collodion baby is a type of topical treatment used to treat skin conditions such as eczema, psoriasis, and other dry skin conditions. It is a combination of collodion and other ingredients that help to soothe and heal the skin. The collodion helps to form a protective barrier on the skin, while the other ingredients help to moisturize and nourish the skin.  Read More

Acro-renal-mandibular syndrome is a rare genetic disorder characterized by abnormalities of the head and face, kidneys, and hands and feet. It is caused by a mutation in the gene encoding the protein filamin A. Symptoms may include cleft lip and palate, low-set ears, wide-set eyes, a small lower jaw, and webbing of the fingers and toes. Other features may include kidney abnormalities, hearing loss, and developmental delays. Treatment is based  Read More

Acro-renal-ocular syndrome is a rare genetic disorder that affects the kidneys, eyes, and extremities. It is caused by a mutation in the PAX2 gene and is characterized by abnormalities in the kidneys, eyes, and extremities. Symptoms may include kidney malformations, vision problems, and skeletal abnormalities. Treatment typically involves managing the symptoms and may include medications, surgery, and lifestyle changes.  Read More

Acrocallosal syndrome is a rare genetic disorder that affects the development of the brain and other parts of the body. It is characterized by the presence of extra fingers and toes, a wide space between the eyes, and a wide head. Other features may include intellectual disability, seizures, and vision and hearing problems.  Read More

Acrocallosal Syndrome, Schinzel Type is a rare genetic disorder that affects the development of the brain and other parts of the body. It is caused by a mutation in the NDE1 gene. Symptoms of this disorder include intellectual disability, seizures, facial abnormalities, and skeletal malformations. Other features may include hydrocephalus, cleft lip and/or palate, and polydactyly. Treatment is supportive and may include physical, occupational,  Read More

Acrocapitofemoral dysplasia is a rare genetic disorder that affects the development of the bones in the arms and legs. It is characterized by short stature, shortening of the arms and legs, and malformation of the shoulder and hip joints. Other features may include joint laxity, scoliosis, and abnormal curvature of the spine. There is no known cure for this disorder, but physical therapy and other treatments can help improve mobility and quali  Read More

Acrocardiofacial syndrome (ACFS) is a rare genetic disorder characterized by a combination of physical features, including a distinctive facial appearance, heart defects, and skeletal abnormalities. It is caused by a mutation in the gene encoding the transcription factor TBX1. Symptoms may include a wide-set eyes, a small lower jaw, a cleft palate, and heart defects such as atrial septal defect, ventricular septal defect, and patent ductus art  Read More

Acrocephalopolydactyly is a rare genetic disorder that affects the development of the head, face, and hands. It is characterized by an abnormally shaped head, extra fingers and toes, and facial abnormalities. It is caused by a mutation in the GLI3 gene.  Read More

Acrocraniofacial dysostosis is a rare genetic disorder that affects the development of the skull, face, and hands. It is characterized by a small head, a flat face, and abnormally shaped hands and fingers. Other features may include a cleft palate, low-set ears, and a small jaw. In some cases, the disorder can also cause intellectual disability, hearing loss, and vision problems. Treatment typically involves a combination of surgery, physical  Read More

Acrodermatitis continua of Hallopeau (ACH) is a rare skin condition that causes painful, red, scaly patches on the hands and feet. It is also known as pustular psoriasis of the hands and feet. ACH is an autoimmune disorder, meaning that the body’s immune system mistakenly attacks healthy skin cells. Symptoms of ACH include red, scaly patches on the hands and feet, itching, burning, and pain. Treatment for ACH typically involves topical medic  Read More

Acrodermatitis enteropathica is a rare inherited disorder that affects the skin, hair, and nails. It is caused by a deficiency of zinc in the body. Symptoms include dry, scaly skin, hair loss, and nail abnormalities. Treatment involves supplementing the diet with zinc and other vitamins and minerals.  Read More

Acrodermatitis Enteropathica (AE) is a rare inherited disorder of zinc metabolism that affects the skin, hair, nails, and eyes. It is characterized by a red, scaly rash on the hands and feet, alopecia (hair loss), and nail dystrophy (thickening and discoloration of the nails). Ophthalmologically, AE can cause conjunctivitis, corneal ulceration, and photophobia. Treatment involves zinc supplementation and avoidance of zinc-deficient foods.  Read More

Acrodysostosis is a rare genetic disorder that affects the development of bones and other parts of the body. It is characterized by short stature, underdeveloped bones in the hands and feet, and facial abnormalities. Other symptoms may include hearing loss, intellectual disability, and breathing problems. There is no cure for acrodysostosis, but treatment can help manage the symptoms.  Read More

Acrodysostosis with multiple hormone resistance is a rare genetic disorder characterized by skeletal abnormalities, short stature, and resistance to multiple hormones. It is caused by a mutation in the PRKAR1A gene, which is responsible for the production of a protein that helps regulate the activity of certain hormones. Symptoms of the disorder include short stature, facial abnormalities, skeletal malformations, and resistance to hormones suc  Read More

Acrodysplasia scoliosis is a rare form of scoliosis that is caused by a genetic mutation. It is characterized by short stature, skeletal abnormalities, and scoliosis. It is usually diagnosed in infancy or early childhood. Treatment typically involves bracing and physical therapy to help manage the scoliosis. In some cases, surgery may be necessary to correct the curvature of the spine.  Read More

Acrofacial dysostosis, Catania type is a rare genetic disorder characterized by facial abnormalities, skeletal malformations, and intellectual disability. It is caused by a mutation in the gene encoding the protein filamin B. Symptoms may include a small head, wide-set eyes, a flat nasal bridge, a cleft lip and/or palate, and malformed ears. Other features may include short stature, joint contractures, and intellectual disability. Treatment is  Read More

Acrofacial dysostosis, Kennedy-Teebi type is a rare genetic disorder characterized by facial abnormalities, skeletal malformations, and intellectual disability. It is caused by a mutation in the gene encoding the transcription factor TBX1. Symptoms may include cleft lip and/or palate, low-set ears, wide-set eyes, and a small lower jaw. Other features may include hearing loss, heart defects, and kidney abnormalities. Treatment is based on the i  Read More

Acrofacial dysostosis, Palagonia type is a rare genetic disorder characterized by facial abnormalities, skeletal malformations, and intellectual disability. It is caused by a mutation in the gene encoding the protein filamin A. Symptoms may include a wide-set eyes, a flat nasal bridge, a small lower jaw, and a cleft palate. Other features may include hearing loss, scoliosis, and short stature. Treatment is supportive and may include physical a  Read More

At this time, there is no known cure for Acrofacial dysostosis, Rodriguez type. Treatment is focused on managing the symptoms and complications associated with the condition. This may include medications to help with breathing, physical therapy to help with movement, and surgery to correct any facial deformities.  Read More

Acrofacial dysostosis, Weyers type is a rare genetic disorder characterized by facial abnormalities, skeletal malformations, and intellectual disability. It is caused by a mutation in the gene encoding the protein NOG. Symptoms may include a wide-set eyes, a flat nasal bridge, a small lower jaw, and a cleft palate. Other features may include hearing loss, scoliosis, and short stature. Treatment is supportive and may include physical therapy, s  Read More

Acrofrontofacionasal dysostosis is a rare genetic disorder characterized by abnormalities of the face, skull, and hands. It is caused by a mutation in the FGFR2 gene, which is responsible for the development of the face, skull, and hands. Symptoms of this disorder include a wide forehead, a flat midface, a short nose, a small lower jaw, and malformed hands and feet. Other features may include hearing loss, cleft palate, and intellectual disabi  Read More

Acrogeria is a rare genetic disorder characterized by premature aging of the skin. It is caused by a mutation in the LMNA gene, which is responsible for producing lamin A, a protein that helps maintain the structure of the nucleus in cells. Symptoms of Acrogeria include thin, fragile skin, wrinkles, and a loss of fat and muscle in the face and hands. Other symptoms may include joint stiffness, osteoporosis, and a decrease in the production of  Read More

Acrokeratoelastoidosis of Costa is a rare skin disorder characterized by thickening and hardening of the skin on the palms and soles of the feet. It is caused by an accumulation of keratin, a protein found in the outer layer of the skin. Symptoms include thickening and hardening of the skin, as well as the formation of small bumps and nodules. The condition is usually painless, but can cause discomfort when pressure is applied to the affected  Read More

Acrokeratosis verruciformis of Hopf is a rare skin disorder characterized by wart-like lesions on the hands and feet. It is caused by a mutation in the gene that codes for the protein keratin. The lesions are usually painless and may be present at birth or develop later in life. They may be light or dark in color and may be scaly or smooth. Treatment is usually not necessary, but some people may choose to use topical medications or laser thera  Read More

Acromegaly is a rare disorder caused by an excess of growth hormone in the body. It is usually caused by a benign tumor on the pituitary gland, which is located at the base of the brain. Symptoms of acromegaly include enlargement of the hands, feet, and facial features, as well as joint pain, headaches, and fatigue. If left untreated, acromegaly can lead to serious health complications, such as diabetes, heart disease, and high blood pressure.  Read More

Acromelanosis is a rare skin disorder characterized by the presence of dark, pigmented patches on the skin. These patches are usually found on the face, neck, and hands, and can range in color from light brown to black. The cause of acromelanosis is unknown, but it is thought to be related to an underlying genetic disorder. Treatment typically involves the use of topical creams and laser therapy.  Read More

Acromelic frontonasal dysplasia is a rare genetic disorder that affects the development of the face, head, and limbs. It is characterized by a wide forehead, a flat nasal bridge, a wide nasal tip, and a wide mouth. Other features may include a cleft lip and/or palate, low-set ears, and short stature. In some cases, the disorder may also cause intellectual disability and/or hearing loss.  Read More

Acromesomelic dysplasia is a rare genetic disorder that affects the growth of bones in the arms and legs. It is characterized by short stature, short limbs, and abnormal bone development. People with this disorder may also have other physical abnormalities, such as a curved spine, a small chest, and a narrow pelvis. In some cases, the disorder can cause intellectual disability. Treatment typically involves physical therapy and orthopedic surge  Read More

Acromesomelic dysplasia, Grebe type is a rare genetic disorder characterized by short stature, skeletal abnormalities, and facial dysmorphism. It is caused by a mutation in the TRIP11 gene, which is responsible for the production of a protein involved in the development of bones and cartilage. Symptoms of this disorder include short stature, short limbs, and a distinctive facial appearance with a prominent forehead, deep-set eyes, and a small  Read More

Acromesomelic dysplasia, Hunter-Thompson type is a rare genetic disorder characterized by short stature, skeletal abnormalities, and facial features. It is caused by a mutation in the TRIP11 gene, which is responsible for the production of a protein involved in the development of bones and cartilage. Symptoms of this disorder include short stature, short limbs, and a distinctive facial appearance with a prominent forehead, deep-set eyes, and a  Read More

Acromesomelic dysplasia, Maroteaux type is a rare genetic disorder characterized by short stature, skeletal abnormalities, and distinctive facial features. It is caused by a mutation in the TRPV4 gene, which is responsible for the production of a protein that helps regulate the development of bones and cartilage. Symptoms of this disorder include short stature, short arms and legs, a curved spine, and a small chest. Other features may include  Read More

Acromicric dysplasia is a rare genetic disorder that affects the growth of bones and cartilage. It is characterized by short stature, short hands and feet, and a distinctive facial appearance. Other features may include joint stiffness, hearing loss, and respiratory problems. The condition is caused by mutations in the TRPV4 gene and is inherited in an autosomal dominant pattern. Treatment is focused on managing the symptoms and may include ph  Read More

Acroosteolysis-keloid-like lesions-premature aging syndrome (AKLPAS) is a rare genetic disorder characterized by the development of abnormal bone growths (acroosteolysis) and keloid-like lesions on the skin. It is also associated with premature aging of the skin, hair, and nails. The exact cause of AKLPAS is unknown, but it is believed to be caused by a genetic mutation. Treatment for AKLPAS is limited and typically involves the use of topical  Read More

Acrootoocular syndrome is a rare genetic disorder characterized by the presence of facial abnormalities, including a wide-set eyes, a flat nasal bridge, and a small chin. It is also associated with a number of other physical and developmental abnormalities, including hearing loss, intellectual disability, and skeletal abnormalities.  Read More

Acropectoral syndrome is a rare genetic disorder characterized by the presence of extra fingers and toes (polydactyly), as well as abnormalities of the chest wall and shoulder girdle. It is caused by a mutation in the HOXD13 gene. Symptoms may include webbing of the fingers and toes, underdeveloped or absent pectoral muscles, and a narrow chest. Treatment typically involves surgery to correct the physical abnormalities.  Read More

Acropectorovertebral dysplasia is a rare genetic disorder that affects the development of the bones in the arms, legs, and spine. It is characterized by short stature, short arms and legs, and a curved spine. Other features may include joint stiffness, scoliosis, and malformed fingers and toes. This condition is caused by mutations in the PEX gene and is inherited in an autosomal recessive pattern. Treatment is based on the symptoms present an  Read More

Acrorenal syndrome is a rare genetic disorder that affects the development of the kidneys and the extremities. It is characterized by the presence of abnormal kidneys, short stature, and malformations of the hands and feet. It is caused by a mutation in the PAX2 gene. Symptoms may include kidney failure, growth retardation, and malformations of the hands and feet. Treatment typically involves managing the symptoms and may include dialysis, sur  Read More

ACTH deficiency is a rare disorder caused by a lack of the hormone adrenocorticotropic hormone (ACTH). This hormone is produced by the pituitary gland and is responsible for stimulating the adrenal glands to produce cortisol, a hormone that helps regulate metabolism, blood pressure, and the body's response to stress. Without enough ACTH, the adrenal glands cannot produce enough cortisol, leading to a variety of symptoms. Symptoms of ACTH defic  Read More

Actinic lichen planus is a type of lichen planus that is caused by long-term exposure to ultraviolet (UV) radiation from the sun. It is characterized by flat-topped, scaly, and itchy patches on the skin that are usually found on sun-exposed areas such as the face, neck, arms, and hands. Treatment typically involves avoiding further sun exposure and using topical corticosteroids or other medications to reduce inflammation.  Read More

Actinic prurigo is a rare skin condition that is caused by an abnormal reaction to sunlight. It is characterized by itchy, red bumps that appear on areas of the skin that are exposed to the sun. The bumps can become scaly and may even blister. Treatment typically involves avoiding sun exposure and using topical medications or phototherapy.  Read More

Actinomycosis is a rare bacterial infection caused by the Actinomyces bacteria. It usually affects the face, neck, and chest, but can spread to other parts of the body. Symptoms may include fever, fatigue, and a lump or abscess in the affected area. Treatment typically involves antibiotics and surgery.  Read More

Action myoclonus-renal failure syndrome (AMRF) is a rare genetic disorder characterized by myoclonus (involuntary muscle jerks) and progressive renal failure. It is caused by mutations in the gene SLC33A1, which is responsible for the production of a protein called aspartoacylase. This protein is essential for the normal functioning of the nervous system. People with AMRF typically experience myoclonus, seizures, cognitive impairment, and prog  Read More

Activated PI3K-delta syndrome (APDS) is a rare genetic disorder caused by mutations in the PIK3CD gene. It is characterized by recurrent infections, enlarged lymph nodes, and an increased risk of developing certain types of cancer. Other symptoms may include low platelet count, anemia, and skin rashes. Treatment typically involves antibiotics, immunoglobulin therapy, and chemotherapy.  Read More

Acute ackee fruit intoxication is a type of food poisoning caused by eating unripe ackee fruit. The unripe fruit contains a toxin called hypoglycin A, which can cause severe vomiting, hypoglycemia, and even death if left untreated. Symptoms usually appear within a few hours of eating the fruit and can include nausea, vomiting, abdominal pain, and confusion. Treatment typically involves intravenous fluids and glucose to restore blood sugar leve  Read More

Acute annular outer retinopathy (AOOR) is a rare eye disorder that affects the peripheral retina. It is characterized by the sudden onset of a ring-shaped lesion in the outer retina, which can cause vision loss. The cause of AOOR is unknown, but it is thought to be related to inflammation or an autoimmune response. Treatment typically involves corticosteroids and immunosuppressive medications.  Read More

Acute basophilic leukemia (ABL) is a rare type of acute myeloid leukemia (AML) that is characterized by an abnormal increase in the number of basophils, a type of white blood cell. It is a very aggressive form of leukemia and is often difficult to treat. Symptoms of ABL include fatigue, fever, weight loss, and anemia. Treatment typically involves chemotherapy and/or radiation therapy.  Read More

Acute bilirubin encephalopathy is a neurological disorder caused by high levels of bilirubin in the blood. It is most commonly seen in newborns, and is caused by an inability of the liver to process bilirubin. Symptoms of acute bilirubin encephalopathy include seizures, lethargy, poor feeding, and jaundice. Treatment typically involves phototherapy and exchange transfusions.  Read More

Acute cholecystitis is an inflammation of the gallbladder, usually caused by a gallstone blocking the cystic duct. Symptoms may include abdominal pain, nausea, vomiting, and fever. Treatment typically involves antibiotics and surgery to remove the gallbladder.  Read More

Acute Disseminated Encephalomyelitis (ADEM) is an inflammatory disorder of the central nervous system (CNS) that is characterized by a sudden onset of neurological symptoms. It is thought to be an autoimmune disorder, in which the body's own immune system attacks the CNS. Symptoms of ADEM can include fever, headache, confusion, seizures, and weakness or paralysis of the limbs. In some cases, the symptoms may resolve on their own, but in other  Read More

Acute disseminated encephalomyelitis with anti-MOG antibodies (ADEM-MOG) is a rare autoimmune disorder of the central nervous system (CNS) characterized by inflammation of the brain and spinal cord. It is caused by the body's immune system attacking its own myelin, the protective sheath that covers nerve cells. Symptoms of ADEM-MOG can include fever, headache, confusion, seizures, and weakness or paralysis of the limbs. Treatment typically inv  Read More

Acute disseminated encephalomyelitis (ADEM) without anti-MOG antibodies is an inflammatory demyelinating disorder of the central nervous system (CNS) that is characterized by a sudden onset of neurological symptoms, including fever, headache, confusion, and seizures. It is thought to be caused by an autoimmune reaction to an infection or other trigger. ADEM without anti-MOG antibodies is a rare form of ADEM that does not involve the presence o  Read More

Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a rare neurological disorder characterized by recurrent seizures, encephalopathy (brain dysfunction), and reduced diffusion of water molecules in the brain on MRI scans. Symptoms typically begin in infancy or early childhood and may include seizures, developmental delay, intellectual disability, movement disorders, and behavioral problems. Treatment typically invo  Read More

Acute endophthalmitis is an infection of the eye that can cause severe vision loss. It is usually caused by bacteria or fungi that enter the eye through a wound or surgical procedure. Symptoms of acute endophthalmitis include redness, pain, blurred vision, and light sensitivity. Treatment typically involves antibiotics, antifungal medications, and/or surgery.  Read More

Acute eosinophilic pneumonia is a rare type of pneumonia caused by an increase in the number of eosinophils, a type of white blood cell, in the lungs. Symptoms of acute eosinophilic pneumonia include fever, cough, shortness of breath, chest pain, and fatigue. Treatment typically involves corticosteroids and antibiotics.  Read More

Acute erythroid leukemia (AEL) is a rare type of acute myeloid leukemia (AML) that affects the red blood cells. It is characterized by the rapid production of immature red blood cells (erythroblasts) in the bone marrow. Symptoms of AEL include fatigue, anemia, and an enlarged spleen. Treatment typically involves chemotherapy and/or a stem cell transplant.  Read More

Acute fatty liver of pregnancy (AFLP) is a rare but serious complication of pregnancy that can occur in the third trimester. It is caused by an accumulation of fat in the liver, which can lead to liver failure and other serious complications. Symptoms of AFLP include nausea, vomiting, abdominal pain, jaundice, and rapid weight gain. Treatment typically involves delivery of the baby and supportive care.  Read More

Acute Febrile Neutrophilic Dermatosis (Sweet Syndrome) is a rare skin disorder characterized by the sudden onset of fever, skin lesions, and an increase in the number of neutrophils (a type of white blood cell) in the bloodstream. It is usually associated with an underlying infection or inflammatory condition, such as an autoimmune disorder. Symptoms may include red, tender, and swollen skin lesions that may be filled with pus. Treatment typic  Read More

Acute flaccid myelitis (AFM) is a rare neurological condition that affects the spinal cord and can cause paralysis. It is most commonly seen in children and is believed to be caused by a virus, although the exact cause is unknown. Symptoms include sudden onset of arm or leg weakness, facial droop or weakness, difficulty speaking or swallowing, and loss of muscle tone and reflexes. Treatment typically involves physical therapy and supportive ca  Read More

Acute generalized exanthematous pustulosis (AGEP) is a rare skin condition characterized by the sudden onset of multiple, small, non-infectious pustules on the skin. It is usually accompanied by fever, chills, and other systemic symptoms. AGEP is thought to be an allergic reaction to certain medications, although the exact cause is unknown. Treatment typically involves discontinuing the suspected medication and providing supportive care.  Read More

Acute graft versus host disease (aGVHD) is a serious complication that can occur after a stem cell or bone marrow transplant. It occurs when the donor cells (the graft) attack the recipient’s (the host’s) organs and tissues. Symptoms of aGVHD can include skin rash, diarrhea, nausea, vomiting, abdominal pain, and liver and/or kidney failure. Treatment for aGVHD may include immunosuppressive medications, transfusions, and supportive care.  Read More

Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins is a rare and potentially fatal condition that affects infants. It is caused by a defect in the synthesis of proteins encoded by mitochondrial DNA (mtDNA). This defect leads to a decrease in the production of essential proteins, resulting in liver failure. Symptoms of this condition include jaundice, poor feeding, vomiting, and lethargy. Treatment typically involve  Read More

Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome (AILF-CPSMN) is a rare, inherited disorder characterized by the sudden onset of liver failure in infancy, followed by progressive cerebellar ataxia (incoordination of movement) and peripheral sensory motor neuropathy (nerve damage). Affected individuals may also experience seizures, intellectual disability, and vision and hearing loss. The exact cause  Read More

Acute infantile liver failure-multisystemic involvement syndrome (AILF-MSI) is a rare and potentially fatal condition that affects infants. It is characterized by acute liver failure, multi-organ involvement, and a rapid progression of symptoms. Symptoms may include jaundice, abdominal pain, vomiting, diarrhea, fever, and lethargy. Treatment typically involves supportive care, such as intravenous fluids and nutrition, as well as medications to  Read More

Acute inflammatory demyelinating polyradiculoneuropathy (AIDP) is an autoimmune disorder that affects the peripheral nervous system. It is characterized by inflammation of the myelin sheath, the protective covering of the nerves, which can lead to muscle weakness, sensory disturbances, and autonomic dysfunction. AIDP is also known as Guillain-Barré Syndrome (GBS).  Read More

Acute Intermittent Porphyria (AIP) is a rare genetic disorder that affects the body's ability to produce heme, a molecule that helps carry oxygen in the blood. It is caused by a deficiency of the enzyme porphobilinogen deaminase (PBGD). Symptoms of AIP can include abdominal pain, nausea, vomiting, constipation, weakness, confusion, and seizures. In severe cases, it can lead to paralysis and even death. Treatment typically involves managing sym  Read More

Acute interstitial pneumonia (AIP) is a rare and severe form of interstitial lung disease (ILD). It is characterized by inflammation and scarring of the lung tissue, which can lead to difficulty breathing and other respiratory symptoms. AIP is a potentially life-threatening condition and requires prompt medical attention. Treatment typically involves corticosteroids and other medications to reduce inflammation and improve breathing.  Read More

Acute liver failure is a rare but life-threatening condition in which the liver suddenly stops functioning. It can be caused by a variety of factors, including viral hepatitis, drug or alcohol abuse, or an autoimmune disorder. Symptoms of acute liver failure include jaundice, abdominal pain, nausea, vomiting, and confusion. Treatment typically involves supportive care and a liver transplant.  Read More

Acute lung injury (ALI) is a serious condition in which the lungs become inflamed and are unable to provide enough oxygen to the body. It is a type of acute respiratory distress syndrome (ARDS) and is usually caused by a severe infection, trauma, or other medical condition. Symptoms of ALI include difficulty breathing, chest pain, and a bluish tint to the skin. Treatment typically involves supplemental oxygen, mechanical ventilation, and medic  Read More

Acute macular neuroretinopathy (AMN) is a rare eye disorder that affects the macula, the part of the retina responsible for central vision. It is characterized by sudden, painless loss of central vision, often accompanied by a central scotoma (blind spot). AMN is usually a self-limiting condition, meaning that it resolves on its own without treatment. However, some patients may experience permanent vision loss.  Read More

Acute mast cell leukemia (AML) is a rare and aggressive form of leukemia that is characterized by the rapid accumulation of abnormal mast cells in the bone marrow and other organs. It is a type of myeloproliferative neoplasm (MPN) and is considered a subtype of acute myeloid leukemia (AML). Symptoms of AML include fever, night sweats, weight loss, fatigue, and an enlarged spleen. Treatment typically involves chemotherapy and/or stem cell trans  Read More

Acute megakaryoblastic leukemia (AMKL) is a rare type of acute myeloid leukemia (AML) that affects the bone marrow and blood. It is characterized by the presence of abnormal megakaryoblasts, which are immature cells that normally develop into platelets. AMKL is most common in children, but can also occur in adults. Symptoms of AMKL include fatigue, fever, easy bruising, and bleeding. Treatment typically involves chemotherapy and/or stem cell t  Read More

Acute megakaryoblastic leukemia (AMKL) in Down syndrome is a rare type of leukemia that affects children with Down syndrome. It is a type of acute myeloid leukemia (AML) that is characterized by the presence of megakaryoblasts, which are immature cells that normally develop into platelets. AMKL in Down syndrome is more aggressive than other types of AML and is associated with a poorer prognosis. Treatment typically involves chemotherapy and st  Read More

Acute megakaryoblastic leukemia (AMKL) without Down syndrome is a rare type of acute myeloid leukemia (AML) that affects the bone marrow and blood. It is characterized by the presence of megakaryoblasts, which are immature cells that normally develop into platelets. AMKL without Down syndrome is most common in children and is usually treated with chemotherapy and/or stem cell transplantation.  Read More

Acute monoblastic/monocytic leukemia (AML-M5) is a type of acute myeloid leukemia (AML) that is characterized by the presence of monoblasts and monocytes in the bone marrow. It is a rare subtype of AML, accounting for only 1-2% of all AML cases. AML-M5 is associated with a poor prognosis and is often difficult to treat. Treatment typically involves chemotherapy and/or stem cell transplantation.  Read More

Acute motor and sensory axonal neuropathy (AMSAN) is a rare type of peripheral neuropathy that affects the motor and sensory nerves. It is characterized by sudden onset of weakness and sensory loss in the arms and legs. Symptoms may include muscle weakness, numbness, tingling, and pain. AMSAN is caused by damage to the axons of the peripheral nerves, which are responsible for carrying signals from the brain and spinal cord to the muscles and s  Read More

Acute motor axonal neuropathy (AMAN) is a rare type of Guillain-Barré syndrome (GBS) that is characterized by the sudden onset of muscle weakness and paralysis. It is caused by damage to the axons of the peripheral nerves, which are responsible for transmitting signals from the brain and spinal cord to the muscles. Symptoms of AMAN include muscle weakness, paralysis, and loss of reflexes. In some cases, the paralysis can be so severe that it  Read More

Acute myeloblastic leukemia with maturation (AML-M) is a type of acute myeloid leukemia (AML) in which there is a maturation of the myeloid cells. It is characterized by the presence of immature myeloid cells in the bone marrow, along with more mature myeloid cells. The immature cells are usually blasts, which are immature white blood cells. The more mature cells are usually myelocytes, which are slightly more mature white blood cells. AML-M i  Read More

Acute myeloblastic leukemia without maturation (AML-M0) is a type of acute myeloid leukemia (AML) in which the bone marrow contains immature myeloblasts (immature white blood cells) that lack the features of normal mature cells. It is a rare form of AML and is associated with a poor prognosis. Treatment typically involves chemotherapy and/or stem cell transplantation.  Read More

Acute myeloid leukaemia with myelodysplasia-related features (AML-MDS) is a type of acute myeloid leukaemia (AML) that is associated with features of myelodysplastic syndrome (MDS). It is a rare form of AML that is characterized by the presence of abnormal cells in the bone marrow and peripheral blood. Patients with AML-MDS typically have a poor prognosis and require aggressive treatment.  Read More

Acute myeloid leukemia (AML) is a type of cancer that affects the blood and bone marrow. It is a rapidly progressing disease in which the body produces abnormal white blood cells that interfere with the production of normal blood cells. Symptoms of AML include fatigue, fever, easy bruising or bleeding, and shortness of breath. Treatment for AML typically involves chemotherapy, radiation therapy, and/or stem cell transplantation.  Read More

Acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS) are both types of blood cancers that can be caused by exposure to alkylating agents. Alkylating agents are a type of chemotherapy drug that works by damaging the DNA of cancer cells, which prevents them from growing and dividing. Exposure to alkylating agents can increase the risk of developing AML and MDS, as well as other types of cancer.  Read More

Acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS) are both types of blood cancers that can be caused by exposure to radiation. Radiation can damage the DNA of cells, leading to mutations that can cause cancer. People who have been exposed to high levels of radiation, such as those who have had radiation therapy for cancer, are at an increased risk of developing AML or MDS.  Read More

Acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS) are both types of blood cancers that are related to topoisomerase type 2 inhibitor drugs. Topoisomerase type 2 inhibitors are drugs that target an enzyme called topoisomerase II, which is involved in DNA replication and repair. These drugs are used to treat AML and MDS by inhibiting the enzyme and preventing the cancer cells from replicating.  Read More

Acute myeloid leukemia with 11q23 abnormalities is a type of acute myeloid leukemia (AML) that is characterized by a chromosomal abnormality involving the 11q23 region of the genome. This abnormality is associated with a poor prognosis and is often seen in older patients with AML. Treatment for this type of AML typically involves chemotherapy and/or stem cell transplantation.  Read More

Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) is a type of acute myeloid leukemia (AML) characterized by an abnormal chromosomal translocation involving the 16th chromosome. This translocation results in the fusion of two genes, CBFB and MYH11, which leads to the production of an abnormal protein that disrupts the normal development of blood cells. This type of AML is associated with a poor p  Read More

Acute myeloid leukemia with CEBPA somatic mutations is a type of acute myeloid leukemia (AML) that is characterized by the presence of somatic mutations in the CEBPA gene. These mutations are acquired during a person's lifetime and are not inherited. People with this type of AML typically have a worse prognosis than those with other types of AML. Treatment typically involves chemotherapy and/or stem cell transplantation.  Read More

Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) is a rare subtype of acute myeloid leukemia (AML) characterized by a chromosomal abnormality involving the long arm of chromosome 3. This abnormality is caused by a translocation, inversion, or both, of genetic material between chromosomes 3 and 3. This abnormality is associated with a poor prognosis and is often resistant to chemotherapy.  Read More

Acute myeloid leukemia with minimal differentiation (AML-MD) is a type of acute myeloid leukemia (AML) that is characterized by a lack of differentiation of the cancerous cells. This means that the cells have not developed into the mature cells that are normally found in the bone marrow. AML-MD is a rare form of AML and is associated with a poor prognosis. Treatment typically involves chemotherapy and/or stem cell transplantation.  Read More

Acute myeloid leukemia with NPM1 somatic mutations is a type of acute myeloid leukemia (AML) that is characterized by the presence of somatic mutations in the NPM1 gene. These mutations are associated with a poorer prognosis and a higher risk of relapse. Treatment for this type of AML typically involves chemotherapy, stem cell transplantation, and targeted therapies.  Read More

Acute myeloid leukemia with t(6;9)(p23;q34) is a rare subtype of acute myeloid leukemia (AML) characterized by a chromosomal translocation between chromosomes 6 and 9. This translocation results in the fusion of two genes, ETV6 and RUNX1, which leads to the production of an abnormal protein that disrupts normal cell growth and development. This type of AML is associated with a poor prognosis and is often resistant to standard treatments.  Read More

Acute myeloid leukemia with t(8;16)(p11;p13) translocation is a rare subtype of acute myeloid leukemia (AML) characterized by a chromosomal translocation between chromosomes 8 and 16. This translocation results in the fusion of the genes RUNX1 and CBFB, which leads to the production of an abnormal protein that disrupts normal cell growth and development. This type of AML is associated with a poor prognosis and is often resistant to chemotherap  Read More

Acute myeloid leukemia with t(8;21)(q22;q22) translocation is a type of acute myeloid leukemia (AML) characterized by a specific chromosomal translocation between chromosomes 8 and 21. This translocation results in the fusion of two genes, RUNX1 and CBFB, which leads to the production of an abnormal protein that disrupts normal cell growth and development. This type of AML is associated with a poor prognosis and is typically treated with chemo  Read More

Acute myeloid leukemia with t(9;11)(p22;q23) is a type of acute myeloid leukemia (AML) characterized by a chromosomal translocation between chromosomes 9 and 11. This translocation results in the fusion of the MLL gene on chromosome 11 with the AF9 gene on chromosome 9. This fusion gene is known as MLL-AF9 and is associated with a poor prognosis in AML patients.  Read More

Acute myelomonocytic leukemia (AML-M4) is a type of acute myeloid leukemia (AML) that is characterized by the presence of both myeloblasts (immature white blood cells) and monoblasts (immature monocytes) in the bone marrow. It is a rare form of AML, accounting for only about 5% of all cases. Symptoms of AML-M4 include fatigue, fever, weight loss, and anemia. Treatment typically involves chemotherapy and/or stem cell transplantation.  Read More

Acute necrotizing encephalopathy of childhood (ANEC) is a rare neurological disorder that affects the brain and spinal cord. It is characterized by sudden onset of fever, seizures, and neurological deterioration. The exact cause of ANEC is unknown, but it is thought to be caused by a combination of genetic and environmental factors. Treatment is supportive and may include medications to control seizures and other symptoms.  Read More

Acute neonatal citrullinemia type I is a rare inherited metabolic disorder that affects newborns. It is caused by a deficiency of the enzyme argininosuccinate synthetase, which is responsible for the breakdown of the amino acid citrulline. Symptoms of this disorder include vomiting, poor feeding, lethargy, and seizures. If left untreated, it can lead to coma and death. Treatment typically involves a low-protein diet and supplementation with ar  Read More

Acute opioid poisoning is an overdose of opioids, which are drugs that act on the nervous system to reduce pain. It can occur when someone takes too much of an opioid medication or uses an opioid drug without a prescription. Symptoms of acute opioid poisoning include confusion, drowsiness, shallow breathing, pinpoint pupils, and loss of consciousness. Treatment typically involves administering the opioid antagonist naloxone, which can reverse  Read More

Acute pandysautonomia is a rare neurological disorder characterized by sudden and severe autonomic nervous system dysfunction. Symptoms may include dizziness, lightheadedness, nausea, vomiting, abdominal pain, diarrhea, sweating, and difficulty breathing. It is usually caused by an underlying medical condition, such as an infection, autoimmune disorder, or tumor. Treatment typically involves managing the underlying condition and providing supp  Read More

Acute panmyelosis with myelofibrosis (APMF) is a rare form of myeloproliferative neoplasm (MPN) characterized by the rapid development of bone marrow fibrosis, anemia, and leukocytosis. It is a clonal disorder of hematopoietic stem cells that is associated with a poor prognosis. Symptoms of APMF include fatigue, anemia, easy bruising, and bone pain. Treatment typically involves chemotherapy, radiation therapy, and/or stem cell transplantation.  Read More

Acute peripheral arterial occlusion is a medical condition in which a blood vessel in the body becomes blocked, usually due to a clot. This can lead to a decrease in blood flow to the affected area, which can cause pain, numbness, and tissue death. Treatment for this condition typically involves medications to dissolve the clot, as well as surgery to remove the clot or bypass the blocked vessel.  Read More

Acute poisoning by drugs with membrane-stabilizing effect is a type of poisoning caused by drugs that have the ability to stabilize the cell membrane. These drugs are typically used to treat conditions such as seizures, arrhythmias, and hypertension. When taken in large doses, these drugs can cause serious side effects, including nausea, vomiting, dizziness, confusion, and even death.  Read More

Acute Promyelocytic Leukemia (APL) is a type of acute myeloid leukemia (AML) that is characterized by the presence of abnormal promyelocytes in the bone marrow and blood. It is a rare form of leukemia that is caused by a chromosomal translocation that results in the fusion of two genes, PML and RARA. This fusion gene produces a protein that interferes with the normal development of white blood cells, leading to an accumulation of immature prom  Read More

Acute pure sensory neuropathy is a rare neurological disorder that affects the sensory nerves. It is characterized by sudden onset of severe pain, numbness, and tingling in the hands and feet. It can also cause loss of sensation in the affected areas. Symptoms usually resolve within a few weeks, but can last for months or even years. Treatment typically involves medications to reduce pain and improve nerve function.  Read More

Acute radiation syndrome (ARS), also known as radiation sickness or radiation poisoning, is a collection of health effects that occur within 24 hours of exposure to high levels of ionizing radiation. Symptoms of ARS can include nausea, vomiting, diarrhea, fatigue, fever, hair loss, and skin burns. In severe cases, ARS can lead to organ failure and death.  Read More

Acute Respiratory Distress Syndrome (ARDS) is a life-threatening condition that occurs when fluid builds up in the air sacs of the lungs, making it difficult for oxygen to get into the bloodstream. Symptoms of ARDS include difficulty breathing, rapid breathing, and low oxygen levels in the blood. ARDS can be caused by a variety of conditions, including sepsis, pneumonia, trauma, and aspiration. Treatment for ARDS typically involves providing o  Read More

Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (ARLKG) is a rare neurological disorder characterized by the sudden onset of neurological symptoms, including confusion, disorientation, memory loss, and seizures. It is associated with increased levels of alpha-ketoglutarate (AKG) in the urine. The exact cause of ARLKG is unknown, but it is thought to be related to an underlying metabolic disorder. Treatment typic  Read More

Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma is a type of hearing loss that occurs suddenly and is caused by a single, loud sound or a sudden increase in sound pressure. It can be caused by a variety of factors, including exposure to loud noises, head trauma, certain medications, and certain medical procedures. Symptoms of this type of hearing loss include sudden hearing loss,  Read More

Acute sensory ataxic neuropathy is a rare neurological disorder that affects the peripheral nervous system. It is characterized by sudden onset of sensory disturbances, ataxia (lack of coordination), and weakness in the legs. Symptoms may include numbness, tingling, burning, or pain in the hands and feet, difficulty walking, and loss of balance. The cause of acute sensory ataxic neuropathy is unknown, but it is thought to be related to an auto  Read More

Acute transverse myelitis is an inflammatory disorder of the spinal cord that can cause pain, muscle weakness, and sensory disturbances in the arms and legs. It is caused by an infection or an autoimmune reaction, and can lead to paralysis. Treatment typically includes corticosteroids, physical therapy, and other medications.  Read More

Acute transverse myelitis with anti-MOG antibodies is a rare neurological disorder that is characterized by inflammation of the spinal cord. It is caused by the body's immune system attacking the myelin sheath, which is the protective covering of the nerves. Symptoms of this disorder include weakness, numbness, and pain in the arms and legs, as well as bladder and bowel dysfunction. Treatment typically involves corticosteroids and other immuno  Read More

Acute tricyclic antidepressant poisoning is a medical emergency caused by an overdose of tricyclic antidepressants (TCAs). TCAs are a type of antidepressant medication that work by increasing the levels of certain chemicals in the brain. Symptoms of TCA poisoning can include confusion, agitation, seizures, coma, and even death. Treatment for TCA poisoning typically involves supportive care, such as IV fluids and medications to control symptoms  Read More

Acute undifferentiated leukemia is a type of leukemia in which the cancer cells in the bone marrow have not yet developed into a specific type of white blood cell. It is a rare form of leukemia that is difficult to treat and is usually seen in older adults. Symptoms of acute undifferentiated leukemia include fatigue, fever, weight loss, and anemia. Treatment typically involves chemotherapy and/or radiation therapy.  Read More

Acute zonal occult outer retinopathy (AZOOR) is a rare eye disorder that affects the retina, the light-sensitive layer of tissue at the back of the eye. It is characterized by sudden, painless vision loss in one or both eyes, usually in the form of a central or paracentral scotoma (blind spot). The cause of AZOOR is unknown, but it is thought to be related to an autoimmune response. Treatment typically involves corticosteroids and immunosuppre  Read More

Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare genetic disorder that affects the body's ability to break down certain fats. It is caused by mutations in the ACAD9 gene, which provides instructions for making an enzyme called acyl-CoA dehydrogenase 9. This enzyme is involved in the breakdown of fatty acids, which are molecules that provide energy to cells. When the ACAD9 enzyme is not functioning properly, fatty acids cannot be broken do  Read More

ACys amyloidosis is a rare form of amyloidosis caused by the accumulation of abnormal proteins called amyloid-Cys (ACys) in the body's organs and tissues. It is a progressive, degenerative disorder that can affect multiple organs and systems, including the heart, kidneys, liver, and nervous system. Symptoms vary depending on the organs affected, but can include fatigue, weight loss, anemia, and swelling of the legs and feet. Treatment typicall  Read More

Adamantinoma is a rare type of malignant bone tumor that usually affects the long bones of the legs. It is characterized by the presence of a unique type of bone tissue called adamantinomatous tissue. This type of tumor is slow-growing and can be difficult to treat. Treatment typically involves surgery to remove the tumor, followed by radiation and/or chemotherapy.  Read More

Adams Oliver Syndrome (AOS) is a rare genetic disorder characterized by the absence of the scalp, skull bones, and the underlying brain tissue. It is also associated with limb defects, such as missing or malformed fingers and toes. Other features may include heart defects, kidney abnormalities, and intellectual disability. AOS is caused by mutations in the PIEZO2 gene. Treatment is based on the individual's symptoms and may include surgery, ph  Read More

ADan amyloidosis is a rare, progressive, and fatal disorder caused by the accumulation of abnormal proteins called amyloid in the body's organs and tissues. It is caused by mutations in the gene that produces transthyretin (TTR), a protein that transports thyroid hormone and retinol-binding protein in the blood. Symptoms of ADan amyloidosis can include fatigue, weight loss, anemia, peripheral neuropathy, and organ failure. Treatment options in  Read More

ADCY5-Related Dyskinesia is a rare neurological disorder caused by mutations in the ADCY5 gene. It is characterized by involuntary, repetitive movements of the face, trunk, and limbs. Symptoms usually begin in childhood and can range from mild to severe. Treatment is focused on managing symptoms and may include medications, physical therapy, and lifestyle modifications.  Read More

Addison disease, also known as primary adrenal insufficiency, is a rare disorder that occurs when the adrenal glands do not produce enough of the hormone cortisol and, in some cases, the hormone aldosterone. Symptoms of Addison disease can include fatigue, muscle weakness, weight loss, low blood pressure, and darkening of the skin. Treatment typically involves taking hormone replacement medications to replace the hormones that the adrenal glan  Read More

Yes, there is a cure for Addison’s Disease. Treatment typically involves taking medications such as glucocorticoids and mineralocorticoids to replace the hormones that the body is not producing. Additionally, lifestyle changes such as eating a healthy diet, exercising regularly, and managing stress can help to manage the symptoms of Addison’s Disease.  Read More

Adducted thumbs-arthrogryposis syndrome, Christian type is a rare genetic disorder characterized by the presence of adducted thumbs, joint contractures, and other physical abnormalities. It is caused by a mutation in the HOXD13 gene and is inherited in an autosomal dominant manner. Symptoms may include joint contractures, adducted thumbs, and other physical abnormalities. Treatment typically involves physical therapy, occupational therapy, and  Read More

Adenine phosphoribosyltransferase deficiency (APRT deficiency) is an inherited disorder caused by a deficiency of the enzyme adenine phosphoribosyltransferase (APRT). This enzyme is involved in the breakdown of adenine, a component of DNA and RNA. Without enough of this enzyme, adenine builds up in the body and can cause kidney stones, gout, and other health problems.  Read More

Adenocarcinoma of the gallbladder and extrahepatic biliary tract is a type of cancer that affects the gallbladder and the bile ducts outside of the liver. It is a rare form of cancer that is usually diagnosed in people over the age of 60. Symptoms of this cancer can include abdominal pain, jaundice, and weight loss. Treatment options may include surgery, chemotherapy, and radiation therapy.  Read More

Adenohypophysitis is a rare autoimmune disorder that affects the pituitary gland. It is characterized by inflammation of the pituitary gland, which can lead to a decrease in the production of hormones that regulate growth, metabolism, and other bodily functions. Symptoms of adenohypophysitis can include headaches, vision problems, fatigue, and hormonal imbalances. Treatment typically involves medications to reduce inflammation and hormone repl  Read More

Adenoid basal carcinoma of the cervix uteri is a rare type of cervical cancer. It is a slow-growing cancer that is usually found in women over the age of 50. It is characterized by the presence of cells that look like basal cells, which are the most primitive type of cells in the skin. Adenoid basal carcinoma of the cervix uteri is usually treated with surgery, radiation, and/or chemotherapy.  Read More

Adenoid cystic carcinoma (ACC) is a rare type of cancer that develops in the salivary glands, the glands that produce saliva. It is a slow-growing cancer that can spread to other parts of the body, such as the lungs, bones, and lymph nodes. Symptoms of ACC may include a lump in the neck, difficulty swallowing, and facial nerve paralysis. Treatment for ACC may include surgery, radiation therapy, and chemotherapy.  Read More

Adenoid cystic carcinoma of the cervix uteri is a rare type of cancer that affects the cervix, which is the lower part of the uterus. It is a slow-growing cancer that can spread to other parts of the body, such as the lungs, liver, and bones. Symptoms of this type of cancer may include abnormal vaginal bleeding, pelvic pain, and a lump in the cervix. Treatment options may include surgery, radiation therapy, and chemotherapy.  Read More

Adenoma of the pancreas is a rare type of tumor that develops in the pancreas. It is usually benign (non-cancerous) and is made up of glandular tissue. Adenomas of the pancreas can cause abdominal pain, nausea, vomiting, and jaundice. Treatment usually involves surgical removal of the tumor.  Read More

Adenosarcoma of the cervix uteri is a rare type of cancer that affects the cervix, which is the lower part of the uterus. It is a type of sarcoma, which is a cancer that develops from connective tissue. Adenosarcoma of the cervix uteri is usually slow-growing and can be treated with surgery, radiation, and chemotherapy.  Read More

Adenosarcoma of the corpus uteri is a rare type of cancer that affects the uterus. It is a type of mixed tumor, meaning it is composed of both benign and malignant cells. It is usually found in women over the age of 40 and is often mistaken for a benign fibroid tumor. Symptoms may include abnormal vaginal bleeding, pelvic pain, and a feeling of fullness in the abdomen. Treatment typically involves surgery to remove the tumor, and may also incl  Read More

Adenosine monophosphate deaminase deficiency (AMPD) is a rare genetic disorder caused by a deficiency of the enzyme adenosine monophosphate deaminase (AMPD). This enzyme is responsible for breaking down adenosine monophosphate (AMP), an important molecule in the body's energy production process. Without AMPD, AMP builds up in the body, leading to a variety of symptoms, including muscle weakness, fatigue, and difficulty breathing. In some cases  Read More

Adenovirus infection in immunocompromised patients is a serious condition that can cause severe respiratory illness, gastrointestinal illness, and even death. Immunocompromised patients are those with weakened immune systems, such as those with HIV/AIDS, cancer, or organ transplant recipients. These patients are at an increased risk of developing severe and life-threatening complications from adenovirus infection. Symptoms of adenovirus infect  Read More

Adenylosuccinate Lyase Deficiency (ASLD) is a rare genetic disorder caused by a deficiency of the enzyme adenylosuccinate lyase. This enzyme is responsible for breaking down the amino acid aspartate into two other amino acids, fumarate and lysine. Without this enzyme, aspartate builds up in the body, leading to a variety of symptoms including developmental delays, seizures, and movement disorders. ASLD is inherited in an autosomal recessive pa  Read More

Adenylosuccinate synthetase-like 1-related distal myopathy (ASL1-RD) is a rare, inherited neuromuscular disorder characterized by progressive muscle weakness and wasting (atrophy) in the lower legs and feet. It is caused by mutations in the ASL1 gene, which is responsible for producing an enzyme called adenylosuccinate synthetase. This enzyme is involved in the production of purines, which are essential components of DNA and RNA. Mutations in  Read More

Adie Syndrome, also known as Adie's Tonic Pupil, is a neurological disorder that affects the pupil of the eye. It is characterized by a large, sluggish pupil that does not respond to light or accommodation. Other symptoms may include decreased deep tendon reflexes, decreased sweating, and decreased sensation in the affected eye.  Read More

Adiposis dolorosa, also known as Dercum's Disease, is a rare disorder characterized by multiple, painful fatty lumps (lipomas) that form under the skin. These lumps can cause pain, fatigue, and weakness. Other symptoms may include depression, insomnia, and difficulty concentrating. There is no known cure for Adiposis dolorosa, but treatment may include medications, lifestyle changes, and surgery.  Read More

ADNP Syndrome is an extremely rare genetic disorder that affects the development of the brain and other organs. It is caused by a mutation in the ADNP gene, which is responsible for the production of a protein that is essential for normal brain development. Symptoms of ADNP Syndrome include intellectual disability, seizures, autism, and movement disorders.  Read More

Adrenocortical carcinoma with pure aldosterone hypersecretion is a rare form of cancer that affects the adrenal glands. It is characterized by the overproduction of aldosterone, a hormone that helps regulate blood pressure and electrolyte balance. Symptoms of this condition include high blood pressure, low potassium levels, and excessive thirst and urination. Treatment typically involves surgery to remove the tumor, followed by chemotherapy an  Read More

Adrenomyeloneuropathy (AMN) is a rare, inherited disorder that affects the nervous system and the adrenal glands. It is caused by a mutation in the ABCD1 gene, which is responsible for producing a protein called ALDP. Symptoms of AMN include progressive muscle weakness, spasticity, and cognitive impairment. Other symptoms may include vision and hearing loss, seizures, and urinary and bowel incontinence.  Read More

Adrenomyodystrophy (AMM) is a rare genetic disorder that affects the adrenal glands, muscles, and nervous system. It is a form of X-linked adrenoleukodystrophy (X-ALD), a group of inherited disorders that affect the brain and nervous system. Symptoms of AMM include progressive muscle weakness, fatigue, and cognitive impairment. Other symptoms may include seizures, vision problems, and endocrine abnormalities. Treatment typically involves medic  Read More

Adult acute respiratory distress syndrome (ARDS) is a life-threatening condition that occurs when fluid builds up in the lungs, preventing them from filling with enough oxygen. It is most commonly caused by severe infections, trauma, or other medical conditions. Symptoms include difficulty breathing, rapid breathing, and low oxygen levels in the blood. Treatment typically involves providing oxygen, medications, and supportive care.  Read More

Adult familial nephronophthisis-spastic quadriparesia syndrome is a rare genetic disorder that affects the kidneys and nervous system. It is characterized by progressive kidney failure, spasticity (stiffness and difficulty with movement) of the limbs, and intellectual disability. It is caused by mutations in the NPHP1 gene, which is responsible for the production of a protein that helps maintain the structure of the kidneys.  Read More

Adult hepatocellular carcinoma (HCC) is a type of cancer that starts in the cells of the liver. It is the most common type of primary liver cancer in adults. HCC is usually caused by long-term damage to the liver from conditions such as cirrhosis, hepatitis B or C, or alcohol abuse. Symptoms of HCC may include abdominal pain, weight loss, jaundice, and a lump in the abdomen. Treatment options may include surgery, chemotherapy, radiation therap  Read More

Adult hypophosphatasia is a rare genetic disorder that affects the bones and teeth. It is caused by a deficiency of the enzyme alkaline phosphatase, which is responsible for breaking down certain proteins in the body. Symptoms of adult hypophosphatasia include bone pain, fractures, and dental problems such as tooth decay and loss. Treatment typically involves medications to reduce pain and improve bone health.  Read More

Adult idiopathic neutropenia is a rare disorder characterized by a low level of neutrophils, a type of white blood cell, in the blood. It is usually diagnosed in adults over the age of 30 and is not associated with any other underlying medical condition. Symptoms may include recurrent infections, fever, and fatigue. Treatment typically involves antibiotics and other medications to boost the immune system.  Read More

Adult intestinal botulism is a rare form of botulism that occurs when a person ingests preformed botulinum toxin in contaminated food. It is caused by the bacterium Clostridium botulinum, which produces a toxin that can cause paralysis and even death. Symptoms of adult intestinal botulism include nausea, vomiting, abdominal cramps, and constipation. In severe cases, the toxin can cause paralysis of the respiratory muscles, leading to respirato  Read More

Adult Krabbe disease is a rare, inherited disorder that affects the nervous system. It is caused by a deficiency of the enzyme galactocerebrosidase, which is responsible for breaking down certain fats in the body. Symptoms of Adult Krabbe disease include progressive loss of vision, hearing, and motor skills, as well as seizures, dementia, and difficulty swallowing. Treatment typically involves supportive care and enzyme replacement therapy.  Read More

Adult Neuronal Ceroid Lipofuscinosis (ANCL) is a rare, progressive, neurological disorder that affects adults. It is caused by a genetic mutation that leads to the accumulation of lipopigments in the brain and other organs. Symptoms of ANCL include seizures, dementia, difficulty walking, and vision and hearing loss. There is currently no cure for ANCL, but treatments are available to help manage symptoms.  Read More

Adult Onset Still’s Disease (AOSD) is a rare form of inflammatory arthritis that affects adults. It is characterized by high fever, joint pain and swelling, and a salmon-pink rash. Other symptoms may include fatigue, enlarged lymph nodes, and an enlarged spleen. AOSD is an autoimmune disorder, meaning the body’s immune system mistakenly attacks healthy tissue. Treatment typically involves medications to reduce inflammation and suppress the  Read More

Adult Optic Neuritis is a condition that affects the optic nerve, which is the nerve that carries visual information from the eye to the brain. It is characterized by inflammation of the optic nerve, which can cause vision loss, blurred vision, and color vision changes. It is most commonly seen in adults, but can also occur in children. Treatment typically involves corticosteroids to reduce inflammation and improve vision.  Read More

Adult Polyglucosan Body Disease (APBD) is a rare, progressive neurological disorder that affects the central nervous system. It is characterized by the accumulation of polyglucosan bodies in the brain, spinal cord, and peripheral nerves. Symptoms of APBD include progressive muscle weakness, difficulty walking, and difficulty speaking. Other symptoms may include seizures, dementia, and difficulty swallowing. There is currently no cure for APBD,  Read More

ADULT syndrome is a rare genetic disorder characterized by a combination of features including Aortic coarctation, Deafness, Urethral obstruction, Lipid abnormalities, and Thoracic aortic aneurysm. It is caused by a mutation in the GATA4 gene. Symptoms vary from person to person, but may include hearing loss, heart defects, kidney problems, and high cholesterol. Treatment typically involves medications, surgery, and lifestyle changes.  Read More

Adult T-cell leukemia/lymphoma (ATLL) is a rare type of cancer that affects the white blood cells known as T-cells. It is caused by a virus called human T-cell leukemia virus type 1 (HTLV-1). ATLL is most common in Japan, the Caribbean, and parts of Central and South America, but it can occur anywhere in the world. Symptoms of ATLL include fatigue, fever, weight loss, enlarged lymph nodes, skin rash, and night sweats. Treatment options include  Read More

Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare, progressive neurological disorder that affects the white matter of the brain. It is caused by a genetic mutation that is passed down from parent to child. Symptoms typically begin in adulthood and include difficulty walking, muscle weakness, vision problems, and cognitive decline. In some cases, the disorder can lead to dementia. Treatment is supportive and may include physical th  Read More

Adult-onset autosomal recessive cerebellar ataxia (ARCA) is a rare, progressive neurological disorder that affects the cerebellum, the part of the brain that controls coordination and balance. It is characterized by a gradual loss of coordination, balance, and muscle control. Symptoms usually begin in adulthood and can include difficulty walking, speaking, and swallowing, as well as tremors, slurred speech, and difficulty with fine motor skill  Read More

Adult-onset autosomal recessive sideroblastic anemia (ARSA) is a rare inherited disorder characterized by a deficiency of red blood cells (anemia) and the presence of abnormal iron-containing granules (sideroblasts) in the bone marrow. It is caused by mutations in the ALAS2 gene, which is responsible for the production of an enzyme involved in heme synthesis. Symptoms of ARSA include fatigue, weakness, pale skin, and shortness of breath. Treat  Read More

Adult-onset cervical dystonia, DYT23 type is a rare form of dystonia, a neurological movement disorder, that typically begins in adulthood. It is characterized by involuntary muscle contractions in the neck and shoulder area that cause the head to twist and turn into abnormal positions. Symptoms may include neck pain, stiffness, and difficulty turning the head. Treatment typically involves medications, physical therapy, and botulinum toxin inj  Read More

Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (CPEO-MM) is a rare genetic disorder that affects the muscles of the eyes and other parts of the body. It is caused by mutations in the mitochondrial DNA, which is responsible for energy production in cells. Symptoms include progressive weakness and paralysis of the muscles that control eye movement, as well as muscle weakness and fatigue in other parts of the  Read More

Adult-onset citrullinemia type I (CTLN1) is a rare inherited metabolic disorder caused by a deficiency of the enzyme argininosuccinate synthetase (ASS). This enzyme is responsible for the conversion of citrulline to arginine, an essential amino acid. People with CTLN1 typically experience episodes of high ammonia levels in the blood (hyperammonemia) that can lead to neurological symptoms such as confusion, lethargy, and coma. Treatment typical  Read More

Adult-onset distal myopathy due to VCP mutation is a rare, inherited disorder that affects the muscles of the arms and legs. It is caused by a mutation in the valosin-containing protein (VCP) gene. Symptoms typically begin in adulthood and include muscle weakness and wasting in the hands and feet, as well as difficulty walking and climbing stairs. Other symptoms may include muscle cramps, joint pain, and difficulty swallowing. Treatment typica  Read More

Adult-onset dystonia-parkinsonism is a rare neurological disorder characterized by a combination of dystonia (involuntary muscle contractions) and parkinsonism (slowness of movement, tremor, and stiffness). It typically begins in adulthood and progresses slowly over time. Symptoms may include difficulty walking, speaking, and writing, as well as tremors, muscle spasms, and difficulty with balance and coordination. Treatment typically includes  Read More

Adult-onset foveomacular vitelliform dystrophy (AFVD) is a rare, inherited eye disorder that affects the macula, the part of the retina responsible for central vision. It is characterized by the presence of yellowish deposits in the macula, which can cause blurred or distorted vision. AFVD usually affects adults over the age of 40 and is caused by a mutation in the VMD2 gene. Treatment options for AFVD include laser photocoagulation, photodyna  Read More

Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies (AIA) is a rare, acquired immunodeficiency disorder characterized by the presence of autoantibodies directed against interferon-gamma (IFN-γ). These autoantibodies interfere with the normal function of IFN-γ, which is an important cytokine involved in the regulation of the immune system. Patients with AIA typically present with recurrent infections, including bacterial, f  Read More

Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is a rare genetic disorder caused by mutations in the DGUOK gene. This gene is responsible for producing an enzyme called deoxyguanosine kinase, which is involved in the production of mitochondrial DNA. People with this disorder experience progressive muscle weakness, vision loss, hearing loss, and other neurological problems. In some cases, the disorder can be fa  Read More

Adult-onset myasthenia gravis is a chronic autoimmune neuromuscular disorder that is characterized by varying degrees of weakness of the skeletal (voluntary) muscles of the body. The hallmark of myasthenia gravis is muscle weakness that increases during periods of activity and improves after periods of rest. Symptoms may include drooping eyelids, double vision, slurred speech, difficulty chewing and swallowing, and weakness in the arms and leg  Read More

Adult-onset nemaline myopathy is a rare, progressive muscle disorder that affects adults. It is characterized by muscle weakness and wasting, as well as the presence of small, rod-shaped structures called nemaline bodies in muscle tissue. Symptoms can vary from person to person, but may include muscle weakness, fatigue, difficulty walking, and difficulty swallowing. There is no cure for adult-onset nemaline myopathy, but treatments can help ma  Read More

Adult-onset Steinert myotonic dystrophy (also known as Steinert disease) is a type of muscular dystrophy that affects adults. It is a progressive disorder that causes muscle weakness and wasting, as well as other symptoms such as myotonia (involuntary muscle contractions), cataracts, and cardiac and endocrine abnormalities. It is caused by a genetic mutation in the DMPK gene. Treatment focuses on managing symptoms and preventing complications.  Read More

AEC Syndrome (Aplasia, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome) is a rare genetic disorder that affects the development of the skin, hair, nails, teeth, and sweat glands. It is caused by a mutation in the TP63 gene. Symptoms may include sparse or absent hair, dry skin, missing teeth, and cleft lip or palate. Treatment typically involves a combination of surgery, medications, and therapies.  Read More

AFib amyloidosis is a rare condition in which abnormal proteins called amyloid deposits build up in the heart and other organs. This buildup can cause the heart to beat irregularly (atrial fibrillation) and can lead to heart failure. It is most commonly seen in people over the age of 65 and is more common in men than women. Treatment typically involves medications to control the heart rate and rhythm, as well as lifestyle changes to reduce the  Read More

African Iron Overload is a condition caused by a genetic mutation that leads to an excessive accumulation of iron in the body. It is most commonly found in people of African descent, particularly those of West African origin. Symptoms of African Iron Overload include fatigue, joint pain, abdominal pain, and an enlarged liver. Treatment typically involves chelation therapy, which helps to remove excess iron from the body.  Read More

African tick typhus is a bacterial infection caused by Rickettsia africae, a type of bacteria found in certain types of ticks. It is spread through the bite of an infected tick, and symptoms can include fever, headache, rash, and muscle aches. Treatment typically involves antibiotics.  Read More

African trypanosomiasis, also known as sleeping sickness, is a parasitic disease caused by the protozoan Trypanosoma brucei. It is transmitted to humans through the bite of an infected tsetse fly. Symptoms of the disease include fever, headaches, joint pain, and swelling of the lymph nodes. If left untreated, the disease can cause neurological problems, coma, and death.  Read More

Agammaglobulinemia is a rare, inherited disorder in which the body is unable to produce enough antibodies to fight off infections. It is caused by a mutation in the gene that codes for the B-cell receptor, which is responsible for recognizing and responding to foreign invaders. People with agammaglobulinemia are more susceptible to infections, and may require lifelong treatment with antibiotics and immunoglobulin replacement therapy.  Read More

Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome (AMCSD) is a rare genetic disorder characterized by a lack of antibodies (agammaglobulinemia), a small head size (microcephaly), premature closure of the skull bones (craniosynostosis), and severe skin inflammation (dermatitis). It is caused by mutations in the gene encoding the protein tyrosine phosphatase non-receptor type 22 (PTPN22). Symptoms of AMCSD can include r  Read More

AGel amyloidosis is a rare, inherited form of amyloidosis caused by a mutation in the AGel gene. It is characterized by the buildup of abnormal proteins in the body's organs and tissues, which can lead to organ failure. Symptoms of AGel amyloidosis include fatigue, weight loss, anemia, and swelling in the legs and abdomen. Treatment typically involves medications to reduce the amount of abnormal proteins in the body, as well as lifestyle chang  Read More

Agenesis of corpus callosum (ACC) is a rare birth defect in which the corpus callosum, the band of nerve fibers connecting the two hemispheres of the brain, is either partially or completely absent. This condition can cause a variety of physical and cognitive impairments, including intellectual disability, seizures, and movement disorders. ACC is usually diagnosed during infancy or early childhood. Treatment typically involves a combination of  Read More

Agenesis of the superior vena cava (SVC) is a rare congenital disorder in which the superior vena cava, a major vein that carries blood from the head and arms to the heart, is absent or incompletely formed. This condition can cause a variety of symptoms, including difficulty breathing, swelling of the face and neck, and fatigue. Treatment typically involves medications to reduce symptoms and surgery to repair the vein.  Read More

Aggressive NK-cell leukemia is a rare type of cancer that affects a type of white blood cell called natural killer (NK) cells. It is an aggressive form of leukemia that is characterized by an overproduction of NK cells in the blood and bone marrow. Symptoms of aggressive NK-cell leukemia include fever, fatigue, weight loss, night sweats, and enlarged lymph nodes. Treatment typically involves chemotherapy and radiation therapy.  Read More

Aggressive systemic mastocytosis (ASM) is a rare, life-threatening disorder caused by an abnormal increase in mast cells in the body. Mast cells are a type of white blood cell that play an important role in the body’s immune system. In ASM, the mast cells accumulate in the skin, bone marrow, and other organs, leading to a wide range of symptoms. These can include skin rashes, abdominal pain, nausea, vomiting, diarrhea, fatigue, and anaphylax  Read More

Agranulocytosis, acquired is a rare, life-threatening condition in which the body does not produce enough white blood cells, which are essential for fighting infection. It is caused by certain medications, infections, or autoimmune diseases. Symptoms include fever, sore throat, and fatigue. Treatment typically involves stopping the medication or infection that caused the condition, and may include antibiotics, blood transfusions, and other med  Read More

AH amyloidosis is a rare type of amyloidosis caused by the buildup of abnormal proteins called amyloid light chains (AL) in the body's organs and tissues. It is a type of systemic amyloidosis, meaning it affects multiple organs and tissues. AH amyloidosis is caused by a type of plasma cell disorder called primary systemic amyloidosis, which is a type of cancer. Symptoms of AH amyloidosis can include fatigue, weight loss, anemia, and organ dysf  Read More

AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome is a rare genetic disorder caused by a mutation in the AHDC1 gene. It is characterized by intellectual disability, obstructive sleep apnea, and mild dysmorphism (abnormal physical features). People with this disorder may also have other features such as seizures, hypotonia (low muscle tone), and behavioral problems.  Read More

Ahumada-Del Castillo Syndrome is a rare genetic disorder characterized by intellectual disability, facial dysmorphism, and skeletal abnormalities. It is caused by a mutation in the gene encoding the transcription factor FOXG1. Symptoms of the disorder can include delayed development, seizures, hypotonia, and vision and hearing problems.  Read More

AICA-ribosiduria is an inherited disorder caused by a deficiency of the enzyme AICA-ribosidase. This enzyme is responsible for breaking down the amino acid AICA-ribose, which is found in the body. People with this disorder have an accumulation of AICA-ribose in their cells, which can lead to a variety of symptoms, including seizures, mental retardation, and movement disorders.  Read More

Aicardi Syndrome is a rare genetic disorder that affects the development of the brain and the eyes. It is characterized by the absence of a structure in the brain called the corpus callosum, which is responsible for connecting the two hemispheres of the brain. Other symptoms include seizures, intellectual disability, vision problems, and scoliosis. There is no cure for Aicardi Syndrome, but treatments can help manage the symptoms.  Read More

AIDS Dysmorphic Syndrome (ADS) is a condition that affects people living with HIV/AIDS. It is characterized by physical changes in the body, such as wasting, thinning of the skin, and changes in facial features. It can also cause psychological symptoms, such as depression, anxiety, and low self-esteem. Treatment for ADS typically includes antiretroviral therapy, nutritional support, and psychosocial support.  Read More

AIDS wasting syndrome is a condition that is caused by HIV infection and is characterized by unintentional weight loss, muscle wasting, and weakness. It is caused by the body's inability to absorb nutrients and can lead to severe malnutrition.  Read More

AKT2-related familial partial lipodystrophy is a rare genetic disorder that affects the body's ability to store fat. It is caused by mutations in the AKT2 gene, which is responsible for producing an enzyme that helps regulate the metabolism of fat. People with this disorder typically have a loss of fat in the arms, legs, and face, as well as an accumulation of fat in the abdomen, neck, and upper back. Other symptoms may include diabetes, high  Read More

AL amyloidosis is a rare, life-threatening disorder caused by the buildup of abnormal proteins called amyloid in the body's organs and tissues. It is caused by a type of plasma cell disorder, such as multiple myeloma or a related disorder. Symptoms of AL amyloidosis can include fatigue, weight loss, an enlarged tongue, and swelling in the legs and abdomen. Treatment typically involves chemotherapy and other medications to reduce the amount of  Read More

ALA Dehydratase Deficiency Porphyria (ADP) is a rare genetic disorder that affects the body’s ability to produce heme, a component of hemoglobin. ADP is caused by a deficiency of the enzyme ALA dehydratase, which is responsible for converting the amino acid ALA into porphyrin. Symptoms of ADP include abdominal pain, nausea, vomiting, constipation, and dark urine. In severe cases, neurological symptoms such as seizures, confusion, and depress  Read More

Alacrimia-choreoathetosis-liver dysfunction syndrome (ACLDS) is a rare genetic disorder characterized by a combination of three distinct symptoms: alacrimia (decreased tear production), choreoathetosis (involuntary, jerky movements of the arms and legs), and liver dysfunction. It is caused by a mutation in the gene that encodes the enzyme alanine aminotransferase (ALT). The exact cause of ACLDS is unknown, but it is believed to be inherited in  Read More

ALAD Porphyria is a rare genetic disorder caused by a deficiency of the enzyme ALAD (aminolevulinic acid dehydratase). This enzyme is responsible for the production of heme, a molecule that is essential for the production of hemoglobin, the protein that carries oxygen in the blood. People with ALAD Porphyria experience a wide range of symptoms, including abdominal pain, nausea, vomiting, constipation, and neurological problems. In some cases,  Read More

Alagille Syndrome is a rare genetic disorder that affects the liver, heart, and other organs. It is caused by a mutation in the JAG1 gene, which is responsible for producing a protein that helps regulate the development of the liver, heart, and other organs. Symptoms of Alagille Syndrome can include jaundice, liver problems, heart defects, skeletal abnormalities, and facial features. Treatment typically involves managing the symptoms and may i  Read More

Alagille syndrome is a genetic disorder caused by a microdeletion of the short arm of chromosome 20 (20p12). It is characterized by a wide range of symptoms, including liver problems, heart defects, skeletal abnormalities, and facial features. It is estimated to affect 1 in 70,000 to 100,000 people.  Read More

Alagille syndrome is a genetic disorder caused by a mutation in the JAG1 gene. This gene is responsible for producing a protein that helps regulate the development of the heart, liver, and other organs. The mutation in the JAG1 gene results in a decrease in the amount of this protein, which can lead to the development of Alagille syndrome. Symptoms of Alagille syndrome include heart defects, liver problems, skeletal abnormalities, and facial f  Read More

No, Alagille syndrome is not due to a NOTCH2 point mutation. It is caused by mutations in the JAG1 or NOTCH2 genes.  Read More

The symptoms of Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome (ACTHCT) include: -Widely spaced eyes (telecanthus) -Underdeveloped alar cartilages -Coloboma of the eyelids, iris, or retina -Cleft lip and/or palate -Low-set ears -Cleft chin -Cleft palate -Cleft lip -Widely spaced nipples -Abnormalities of the hands and feet -Developmental delay -Intellectua  Read More

The symptoms of Alazami syndrome vary from person to person, but may include: -Developmental delay -Intellectual disability -Seizures -Growth retardation -Feeding difficulties -Hearing loss -Vision problems -Heart defects -Kidney abnormalities -Abnormalities of the hands and feet -Cleft lip and/or palate -Gastrointestinal problems -Skin abnormalities -Be  Read More

Yes, there are treatments available for Albers-Schonberg osteopetrosis. Treatment options include bone marrow transplantation, medications to reduce bone density, and medications to reduce inflammation. Bone marrow transplantation is the most effective treatment for Albers-Schonberg osteopetrosis, but it is not always an option. Medications to reduce bone density can help to reduce the risk of fractures and improve bone strength. Medications t  Read More

Albinism-deafness syndrome is a rare genetic disorder that affects both hearing and pigmentation. People with this disorder have a lack of pigment in their skin, hair, and eyes, as well as hearing loss. The hearing loss is usually severe to profound and is usually present from birth.  Read More

ALDH18A1-related De Barsy syndrome is a rare genetic disorder caused by mutations in the ALDH18A1 gene. It is characterized by a distinctive facial appearance, intellectual disability, growth delays, and vision and hearing problems. People with this condition may also have skeletal abnormalities, including joint contractures, scoliosis, and abnormal curvature of the spine.  Read More

ALECT2 amyloidosis is a rare, inherited form of amyloidosis caused by a mutation in the ALECT2 gene. It is characterized by the buildup of abnormal proteins in the body's organs and tissues, leading to organ damage and other health problems. Symptoms of ALECT2 amyloidosis can include fatigue, weight loss, anemia, and heart problems. Treatment typically involves medications to reduce the amount of amyloid proteins in the body and to manage symp  Read More

Alexander Disease is a rare neurological disorder that affects the brain and spinal cord. It is caused by a mutation in the GFAP gene, which is responsible for producing the protein glial fibrillary acidic protein (GFAP). This protein is essential for the normal functioning of the brain and spinal cord. Symptoms of Alexander Disease include seizures, developmental delays, muscle weakness, and difficulty swallowing. In severe cases, it can lead  Read More

Alexander disease type I is a rare, fatal neurological disorder that affects the central nervous system. It is caused by a mutation in the GFAP gene, which is responsible for producing the protein glial fibrillary acidic protein (GFAP). This protein is essential for the normal functioning of the brain and spinal cord. Symptoms of Alexander disease type I include seizures, developmental delays, and progressive loss of motor skills.  Read More

Alexander disease type II is a rare, progressive neurological disorder caused by mutations in the GFAP gene. It is characterized by the accumulation of abnormal proteins in the brain, which can lead to seizures, developmental delays, and progressive neurological decline. It is typically diagnosed in infancy or early childhood.  Read More

ALG1-CDG is an algorithm for computing the minimum cost of a directed graph. It is based on the Bellman-Ford algorithm and is used to find the shortest path between two nodes in a graph.  Read More

ALG11-CDG is a gene mutation that is associated with a rare form of inherited intellectual disability. It is caused by a mutation in the ALG11 gene, which is located on chromosome 11. The mutation results in a decrease in the activity of the ALG11 enzyme, which is involved in the synthesis of glycoproteins. This can lead to a range of neurological and developmental problems, including intellectual disability, seizures, and movement disorders.  Read More

ALG12-CDG is a flight route operated by Air Algerie, connecting Algiers, Algeria to Charles de Gaulle Airport in Paris, France.  Read More

ALG13-CDG is a gene mutation that is associated with a rare form of inherited epilepsy known as Autosomal Recessive Primary Microcephaly (ARPM). This mutation is caused by a change in the ALG13 gene, which is responsible for the production of an enzyme involved in the production of proteins. People with this mutation have a smaller head size than normal and may experience seizures, developmental delays, and intellectual disability.  Read More

ALG2-CDG is an abbreviation for the German language course "Algebra 2 - Computational Discrete Geometry". It is a course designed to teach students the fundamentals of algebra and discrete geometry, as well as how to use computers to solve problems in these areas.  Read More

ALG3-CDG is a gene mutation that is associated with a rare form of congenital disorder of glycosylation (CDG). It is caused by a mutation in the ALG3 gene, which is responsible for the production of an enzyme involved in the synthesis of N-linked glycoproteins. People with this mutation have a wide range of symptoms, including developmental delays, intellectual disability, seizures, and movement disorders.  Read More

ALG6-CDG is a gene mutation that is associated with a rare form of congenital muscular dystrophy. It is caused by a mutation in the ALG6 gene, which is located on chromosome 9. The mutation results in a deficiency of the enzyme alglucosidase 6, which is involved in the breakdown of glycogen in the body. This deficiency leads to an accumulation of glycogen in the muscles, resulting in progressive muscle weakness and wasting.  Read More

ALG8-CDG is a gene mutation that is associated with a rare form of congenital disorder of glycosylation (CDG). It is caused by a mutation in the ALG8 gene, which is responsible for the production of an enzyme involved in the synthesis of glycoproteins. People with this mutation have a wide range of symptoms, including developmental delays, intellectual disability, seizures, and vision and hearing problems.  Read More

ALG9-CDG is a flight route operated by Air Algerie, connecting Algiers, Algeria to Charles de Gaulle Airport in Paris, France.  Read More

ALK-negative anaplastic large cell lymphoma (ALK-negative ALCL) is a rare type of non-Hodgkin lymphoma (NHL) that affects the lymphatic system. It is a type of T-cell lymphoma, meaning it originates from a type of white blood cell called a T-cell. ALK-negative ALCL is characterized by the presence of large, abnormal cells in the lymph nodes and other organs. It is usually aggressive and can spread quickly to other parts of the body. Treatment  Read More

ALK-positive anaplastic large cell lymphoma (ALK+ ALCL) is a rare type of non-Hodgkin lymphoma (NHL) that is characterized by the presence of the anaplastic lymphoma kinase (ALK) gene rearrangement. ALK+ ALCL is an aggressive form of NHL that typically affects young adults and is more common in males than females. Symptoms of ALK+ ALCL include swollen lymph nodes, fever, night sweats, and weight loss. Treatment typically involves chemotherapy,  Read More

ALK-positive large B-cell lymphoma is a rare type of non-Hodgkin lymphoma (NHL) that is characterized by the presence of a specific gene rearrangement known as the anaplastic lymphoma kinase (ALK) gene rearrangement. This gene rearrangement is found in a subset of B-cell lymphomas and is associated with a more aggressive form of the disease. Treatment for ALK-positive large B-cell lymphoma typically involves a combination of chemotherapy, radi  Read More

Alkaline ceramidase 3 deficiency is a rare genetic disorder caused by a mutation in the ASAH3 gene. It is characterized by the inability of the body to break down a type of fat molecule called ceramide. This leads to an accumulation of ceramide in the body, which can cause a variety of symptoms including seizures, developmental delays, and movement disorders.  Read More

Alkaptonuria is a rare inherited disorder caused by a deficiency of the enzyme homogentisic acid oxidase. This enzyme is responsible for breaking down the amino acid tyrosine. When the enzyme is deficient, the body is unable to break down tyrosine, leading to a buildup of homogentisic acid in the body. This can cause a variety of symptoms, including dark urine, joint pain, and heart problems.  Read More

Alkaptonuria, also known as black urine disease, is a rare inherited disorder caused by a deficiency of the enzyme homogentisic acid oxidase. This enzyme is responsible for breaking down the amino acid homogentisic acid, which is found in certain foods. When the enzyme is deficient, homogentisic acid builds up in the body and is excreted in the urine, causing it to turn black or dark brown. Other symptoms of alkaptonuria include joint pain, ar  Read More

MCT8-specific thyroid hormone cell transporter deficiency (THCT deficiency) is an inherited disorder that is characterized by severe mental retardation, an impaired ability to speak, diminished muscle tone (hypotonia), and/or movement abnormalities. With the exception of poor muscle tone, most affected infants appear to develop normally during the first months of life. However, by about two months of age, affected infants may seem  Read More

MCT8-specific thyroid hormone cell transporter deficiency (THCT deficiency) is an inherited disorder that is characterized by severe mental retardation, an impaired ability to speak, diminished muscle tone (hypotonia), and/or movement abnormalities. With the exception of poor muscle tone, most affected infants appear to develop normally during the first months of life. However, by about two months of age, affected infants may seem  Read More

Allergic bronchopulmonary aspergillosis (ABPA) is a type of allergic reaction to the fungus Aspergillus. It is a chronic condition that affects the lungs and airways. Symptoms include wheezing, coughing, chest tightness, and shortness of breath. ABPA can be treated with medications, such as corticosteroids and antifungal medications.  Read More

Holoprosencephaly (HPE) is the failure of the prosencephalon, or forebrain, to develop normally. The forebrain is a region of the brain in the fetus that develops into parts of the adult brain, including the cerebral cortex. Instead of the normal complete separation of the left and right halves of the forebrain, there is an abnormal continuity between the two sides. There are several different types of holoprosencephaly. In the a  Read More

Alopecia antibody deficiency is an autoimmune disorder in which the body's immune system mistakenly attacks the hair follicles, resulting in hair loss. It is also known as alopecia areata. Symptoms of alopecia antibody deficiency include patchy hair loss, thinning of the hair, and complete baldness. Treatment for alopecia antibody deficiency typically involves topical or oral medications, such as corticosteroids, minoxidil, and immunosuppressa  Read More

Alopecia areata is an autoimmune disorder that causes patchy hair loss on the scalp, face, and sometimes other parts of the body. It is thought to be caused by the immune system mistakenly attacking the hair follicles, leading to hair loss. Alopecia areata is not contagious and is not caused by stress. Treatment options include topical and oral medications, light therapy, and hair transplantation.  Read More

Alopecia totalis is a type of hair loss disorder that causes complete baldness of the scalp. It is an autoimmune disorder, meaning that the body's immune system mistakenly attacks the hair follicles, leading to hair loss. Alopecia totalis is a rare condition, affecting only about 1 in every 50,000 people.  Read More

Alopecia universalis is a rare form of alopecia, an autoimmune disorder that causes complete hair loss on the scalp and body. It is the most severe form of alopecia, and it affects both men and women. People with alopecia universalis have no hair on their scalp, face, and body, including eyebrows and eyelashes.  Read More

Alopecia-contractures-dwarfism-intellectual disability syndrome is a rare genetic disorder characterized by alopecia (hair loss), contractures (stiffness of the joints), dwarfism, and intellectual disability. It is caused by a mutation in the gene encoding the protein filamin A. Symptoms vary from person to person, but may include developmental delays, seizures, and vision and hearing problems. Treatment is supportive and may include physical  Read More

Alopecia-epilepsy-pyorrhea-intellectual disability syndrome (AEPID) is a rare genetic disorder characterized by the presence of alopecia (hair loss), epilepsy, pyorrhea (gum disease), and intellectual disability. It is caused by a mutation in the gene encoding the enzyme phospholipase C gamma 1 (PLCG1). Symptoms of AEPID can vary from mild to severe and may include seizures, developmental delays, and behavioral problems. Treatment typically in  Read More

Alopecia-intellectual disability syndrome is a rare genetic disorder characterized by the absence of hair (alopecia) and intellectual disability. It is caused by a mutation in the gene encoding the protein filaggrin, which is involved in the formation of the skin barrier. Symptoms of the disorder include sparse or absent scalp and body hair, intellectual disability, and other developmental delays.  Read More

Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome (AIDHH) is a rare genetic disorder characterized by alopecia (hair loss), intellectual disability, and hypergonadotropic hypogonadism (elevated levels of gonadotropins, hormones that stimulate the production of sex hormones). It is caused by a mutation in the gene that codes for the enzyme steroid sulfatase (STS). Symptoms of AIDHH include alopecia, intellectual disabilit  Read More

Alpers disease is a progressive neurologic disorder that begins during childhood and is complicated in many instances by serious liver disease. Symptoms include increased muscle tone with exaggerated reflexes (spasticity), seizures, and loss of cognitive ability (dementia).  Read More

Alpers-Huttenlocher syndrome (AHS) is a rare, progressive neurological disorder that affects the brain and liver. It is characterized by seizures, developmental delay, and liver failure. It is caused by mutations in the POLG gene, which is responsible for the production of an enzyme involved in the production of energy in the body. AHS is typically diagnosed in infancy or early childhood and is usually fatal by the age of 10.  Read More

Alpha delta granule deficiency is a rare genetic disorder characterized by a deficiency of alpha delta granules, which are specialized granules found in the cytoplasm of certain types of white blood cells. People with this disorder have an increased risk of developing infections due to a weakened immune system. Symptoms may include recurrent infections, fever, fatigue, and enlarged lymph nodes. Treatment typically involves antibiotics and othe  Read More

Alpha thalassemia is a genetic disorder that affects the production of hemoglobin, the protein in red blood cells that carries oxygen throughout the body. It is caused by a mutation in one or more of the four genes that control the production of alpha globin, a type of hemoglobin. People with alpha thalassemia may have mild to severe anemia, depending on the number of genes affected. Treatment may include blood transfusions, iron supplements,  Read More

Alpha Thalassemia X-linked Intellectual Disability Syndrome (ATXID) is a rare genetic disorder caused by a mutation in the ATRX gene. It is characterized by intellectual disability, developmental delays, and alpha thalassemia, a type of anemia. Symptoms can vary from mild to severe and may include delayed speech and language development, poor muscle tone, seizures, and behavioral problems. Treatment typically involves managing the symptoms and  Read More

Alpha-1 Antitrypsin Deficiency (AATD) is an inherited disorder that can cause lung and liver disease. It is caused by a deficiency of the protein alpha-1 antitrypsin (AAT), which is produced in the liver. AAT helps protect the lungs from damage caused by certain enzymes. When there is not enough AAT, these enzymes can damage the lungs, leading to lung diseases such as emphysema. AATD can also cause liver disease, including cirrhosis.  Read More

Alpha-1-antitrypsin deficiency (AATD) is an inherited disorder that can cause lung and liver disease. It is caused by a deficiency of the protein alpha-1-antitrypsin (AAT), which is produced in the liver. AAT helps protect the lungs from damage caused by certain enzymes. When AAT levels are low, these enzymes can damage the lungs, leading to emphysema and other lung diseases. AATD can also cause liver disease, including cirrhosis.  Read More

Alpha-B crystallin-related late-onset myopathy is a rare, inherited disorder that affects the muscles. It is caused by mutations in the gene that codes for the alpha-B crystallin protein. Symptoms typically begin in adulthood and include muscle weakness, cramps, and stiffness. In some cases, the disorder can progress to cause difficulty walking and breathing. Treatment is supportive and may include physical therapy, medications, and lifestyle  Read More

Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 is a rare, inherited neuromuscular disorder that affects the muscles of the arms and legs. It is caused by mutations in the DAG1 gene, which is responsible for producing the protein alpha-dystroglycan. This protein is important for maintaining the structure of muscle cells and for connecting muscle cells to the surrounding connective tissue. People with this disorder experience prog  Read More

Alpha-heavy chain disease is a rare form of amyloidosis, a condition in which abnormal proteins called amyloid fibrils accumulate in the body's organs and tissues. Alpha-heavy chain disease is caused by the accumulation of abnormal proteins called immunoglobulin alpha-heavy chains in the body's organs and tissues. These proteins can cause organ damage and lead to organ failure. Symptoms of alpha-heavy chain disease include fatigue, weight loss  Read More

Alpha-Mannosidosis is a rare genetic disorder caused by a deficiency of the enzyme alpha-mannosidase. This enzyme is responsible for breaking down complex sugars in the body. People with alpha-mannosidosis experience a wide range of symptoms, including mental retardation, skeletal abnormalities, hearing loss, and vision problems. There is currently no cure for alpha-mannosidosis, but treatments are available to help manage the symptoms.  Read More

Alpha-mannosidosis, adult form is a rare, inherited disorder caused by a deficiency of the enzyme alpha-mannosidase. This enzyme is responsible for breaking down certain complex sugars in the body. When the enzyme is deficient, these sugars accumulate in the body, leading to a variety of symptoms. Symptoms of alpha-mannosidosis, adult form can include hearing loss, vision problems, skeletal abnormalities, mental retardation, and progressive ne  Read More

Alpha-mannosidosis, infantile form is a rare genetic disorder caused by a deficiency of the enzyme alpha-mannosidase. This enzyme is responsible for breaking down complex sugars in the body. When the enzyme is deficient, these sugars accumulate in the body, leading to a variety of symptoms including developmental delays, hearing loss, skeletal abnormalities, and organ dysfunction.  Read More

Alpha-N-acetylgalactosaminidase deficiency, also known as alpha-Galactosidase A deficiency, is a rare genetic disorder caused by a deficiency of the enzyme alpha-N-acetylgalactosaminidase. This enzyme is responsible for breaking down certain complex sugars, including the sugar galactose. When the enzyme is deficient, these sugars accumulate in the body and can cause a variety of symptoms, including liver and kidney damage, mental retardation,  Read More

Alpha-N-acetylgalactosaminidase deficiency type 1 (also known as alpha-Galactosidase A deficiency or Fabry disease) is a rare, inherited disorder caused by a deficiency of the enzyme alpha-galactosidase A. This enzyme is responsible for breaking down certain complex carbohydrates called globotriaosylceramides (Gb3). When the enzyme is deficient, Gb3 accumulates in the body's cells, leading to a wide range of symptoms, including pain, skin lesi  Read More

Alpha-N-acetylgalactosaminidase deficiency type 2 (also known as alpha-Galactosidase A deficiency type 2) is a rare genetic disorder caused by a deficiency of the enzyme alpha-N-acetylgalactosaminidase. This enzyme is responsible for breaking down certain complex sugars, including the sugar galactose. People with this disorder are unable to properly break down and metabolize these sugars, leading to a buildup of toxic substances in the body. S  Read More

Alpha-N-acetylgalactosaminidase deficiency type 3 (also known as alpha-Galactosidase A deficiency type 3) is a rare genetic disorder caused by a deficiency of the enzyme alpha-N-acetylgalactosaminidase (alpha-Gal A). This enzyme is responsible for breaking down certain complex sugars, including the sugar galactose. When the enzyme is deficient, these sugars accumulate in the body, leading to a variety of symptoms, including mental retardation,  Read More

Alpha-thalassemia is an inherited blood disorder caused by a mutation in the alpha-globin gene. It affects the production of hemoglobin, the protein in red blood cells that carries oxygen throughout the body. People with alpha-thalassemia have fewer red blood cells and lower levels of hemoglobin than normal, which can lead to anemia and other health problems.  Read More

Alpha-thalassemia-intellectual disability syndrome (ATIS) is a rare genetic disorder caused by a mutation in the HBA1 and HBA2 genes located on chromosome 16. This mutation results in a decrease in the production of alpha-globin, a protein that is essential for the formation of hemoglobin. This leads to anemia, intellectual disability, and other physical and neurological problems.  Read More

Alpha-thalassemia-myelodysplastic syndrome (AT-MDS) is a rare genetic disorder caused by a mutation in the alpha-globin gene. It is characterized by anemia, thrombocytopenia, neutropenia, and an increased risk of developing acute myeloid leukemia. Symptoms may include fatigue, pale skin, shortness of breath, and an enlarged spleen. Treatment typically involves blood transfusions, iron chelation therapy, and supportive care.  Read More

Alpha-thalassemia-X-linked intellectual disability syndrome (ATR-X syndrome) is a rare genetic disorder that affects the development of the brain and other organs. It is caused by a mutation in the ATRX gene, which is located on the X chromosome. People with ATR-X syndrome typically have intellectual disability, delayed development, and physical abnormalities such as low muscle tone, small head size, and distinctive facial features. They may a  Read More

ALPI-related inflammatory bowel disease (IBD) is a rare form of IBD that is caused by an autoimmune reaction to a protein called alphacrystallin A (ALPI). This protein is found in the lining of the small intestine and is thought to play a role in the development of IBD. Symptoms of ALPI-related IBD include abdominal pain, diarrhea, weight loss, and fatigue. Treatment typically involves medications to reduce inflammation and suppress the immune  Read More

Alport Syndrome is a genetic disorder that affects the kidneys and the ears. It is caused by mutations in the COL4A5 gene, which is responsible for producing type IV collagen, a protein that helps form the basement membrane in the kidneys, inner ear, and eye. Symptoms of Alport Syndrome include hearing loss, proteinuria (excess protein in the urine), and kidney failure.  Read More

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome is a rare genetic disorder that affects the kidneys, eyes, and ears. It is caused by a mutation in the COL4A5 gene, which is responsible for producing type IV collagen, a protein that helps form the basement membrane of the kidneys, eyes, and ears. People with this disorder may experience kidney failure, hearing loss, vision problems, and intellectual disability  Read More

There is no cure for Alstrom Syndrome, but medications can be used to manage some of the symptoms. These medications may include diuretics to reduce fluid retention, beta-blockers to control heart rate, ACE inhibitors to reduce blood pressure, and insulin to control blood sugar levels. Other treatments may include physical therapy, occupational therapy, and speech therapy.  Read More

Alternating Hemiplegia of Childhood (AHC) is a rare neurological disorder that affects the brain and nervous system. It is characterized by episodes of temporary paralysis on one side of the body (hemiplegia) that can last from a few minutes to several days. During an episode, the affected side of the body may become weak or paralyzed, and the person may experience difficulty speaking, walking, or controlling their movements. AHC can also caus  Read More

Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACD/MPV) is a rare, life-threatening lung disorder that affects newborns. It is characterized by abnormal development of the alveoli (air sacs) and capillaries (tiny blood vessels) in the lungs, as well as misalignment of the pulmonary veins (the veins that carry oxygen-rich blood from the lungs to the heart). This misalignment can cause the oxygen-rich blood to mix with the ox  Read More

Alveolar echinococcosis is a parasitic infection caused by the larval form of the tapeworm Echinococcus multilocularis. It is a rare but serious disease that affects the liver, lungs, and other organs. Symptoms may include abdominal pain, fever, weight loss, and jaundice. Treatment typically involves surgery to remove the cysts, followed by long-term medication to prevent recurrence.  Read More

Alveolar soft part sarcoma (ASPS) is a rare type of cancer that affects soft tissues such as muscles, tendons, and ligaments. It usually occurs in the lower extremities, but can also occur in other parts of the body. ASPS is a slow-growing cancer that can spread to other parts of the body, including the lungs, liver, and brain. Treatment typically involves surgery, radiation, and chemotherapy.  Read More

Alveolar soft tissue sarcoma (ASTS) is a rare type of cancer that affects the soft tissues of the body, such as fat, muscle, nerves, and blood vessels. It is most commonly found in the arms, legs, and trunk, but can also occur in other parts of the body. ASTS is a type of sarcoma, which is a cancer that starts in the body's connective tissues. Symptoms of ASTS can include a lump or swelling in the affected area, pain, and fatigue. Treatment fo  Read More

Alveolitis, Extrinsic Allergic is a type of lung inflammation caused by an allergic reaction to inhaled substances. It is also known as hypersensitivity pneumonitis or extrinsic allergic alveolitis. Symptoms of this condition include shortness of breath, coughing, chest tightness, and fatigue. Treatment typically involves avoiding the allergen and taking medications to reduce inflammation.  Read More

ALys amyloidosis is a rare, inherited form of amyloidosis caused by mutations in the ALys gene. It is characterized by the buildup of abnormal proteins in the body's organs and tissues, which can lead to organ failure. Symptoms of ALys amyloidosis can include fatigue, weight loss, anemia, and swelling in the legs and abdomen. Treatment typically involves medications to reduce the amount of abnormal proteins in the body, as well as lifestyle ch  Read More

Amaurosis-hypertrichosis syndrome is a rare genetic disorder characterized by a combination of vision loss (amaurosis) and excessive hair growth (hypertrichosis). It is caused by a mutation in the GNAQ gene, which is responsible for the production of a protein called guanine nucleotide-binding protein alpha-q. Symptoms of the disorder include vision loss, excessive hair growth on the face, scalp, and body, and intellectual disability. Treatmen  Read More

Amelia of lower limb is a congenital disorder in which one or more of the bones in the lower limb are missing. It is a rare condition that affects the development of the lower limb, usually the thighbone (femur) or the shinbone (tibia).  Read More

Amelia of upper limb is a congenital disorder in which one or more of the bones in the arm or hand are missing. It is a rare condition that affects about 1 in every 30,000 births. Symptoms may include a short arm, a hand with fewer than five fingers, or a missing thumb. Treatment may include surgery, physical therapy, and prosthetics.  Read More

Amelo-onycho-hypohidrotic syndrome, also known as Hay-Wells syndrome, is a rare genetic disorder that affects the development of the skin, nails, and sweat glands. It is caused by a mutation in the TP63 gene, which is responsible for the development of these structures. Symptoms of the disorder include missing or malformed nails, missing or malformed sweat glands, and skin abnormalities such as thickening, blistering, and scarring.  Read More

Ameloblastic carcinoma is a rare and aggressive type of cancer that affects the cells of the jawbone. It is a malignant tumor that is composed of both epithelial and mesenchymal cells. It is usually found in the mandible or maxilla and can spread to other parts of the body. Symptoms of ameloblastic carcinoma include swelling, pain, and loosening of the teeth. Treatment typically involves surgery, radiation, and chemotherapy.  Read More

Ameloblastoma is a rare, benign tumor of the jawbone that usually affects the mandible (lower jaw). It is a slow-growing tumor that can cause facial disfigurement if left untreated. It is most common in adults between the ages of 30 and 50, and is more common in males than females. Treatment typically involves surgical removal of the tumor, and may also include radiation therapy or chemotherapy.  Read More

Amelocerebrohypohidrotic syndrome is a rare genetic disorder that affects the development of the brain, skin, and sweat glands. It is caused by a mutation in the FOXI1 gene. Symptoms of this disorder include intellectual disability, seizures, hearing loss, and abnormal facial features. People with this disorder may also have problems with their sweat glands, leading to excessive sweating or an inability to sweat.  Read More

Amelogenesis Imperfecta is a rare genetic disorder that affects the development of tooth enamel. It is caused by mutations in the genes responsible for the production of enamel proteins. Symptoms of the disorder include discolored, pitted, or chalky teeth, and teeth that are more prone to decay and wear. Treatment typically involves the use of dental crowns, veneers, and other restorative treatments to protect the teeth.  Read More

Aminopterin/methotrexate embryofetopathy is a rare birth defect caused by the use of the drugs aminopterin or methotrexate during pregnancy. These drugs are used to treat certain types of cancer, autoimmune diseases, and other conditions. When taken during pregnancy, they can cause severe birth defects, including heart defects, facial malformations, and central nervous system abnormalities.  Read More

Amish lethal microcephaly is a rare genetic disorder that affects the Amish population. It is characterized by a small head size, severe intellectual disability, and early death. It is caused by a mutation in the ASPM gene, which is responsible for controlling the size of the brain.  Read More

Amish nemaline myopathy is a rare, inherited neuromuscular disorder that affects the muscles of the body. It is caused by mutations in the NEB gene, which is responsible for producing a protein called nebulin. Symptoms of the disorder include muscle weakness, hypotonia (low muscle tone), and respiratory problems. It is most commonly seen in the Amish population, hence the name.  Read More

Amniotic Band Syndrome (ABS) is a rare congenital disorder caused by entrapment of fetal parts in fibrous amniotic bands while in utero. These bands can constrict and interfere with normal development of the affected area, leading to a variety of physical deformities. ABS can affect any part of the body, including the limbs, digits, face, and internal organs. Symptoms vary depending on the location and severity of the entrapment. Treatment typ  Read More

Amniotic fluid embolism (AFE) is a rare but serious condition that occurs when amniotic fluid, which surrounds a baby in the uterus during pregnancy, or fetal material, such as hair, enters the mother's bloodstream. This can cause a severe reaction, including a sudden drop in blood pressure, difficulty breathing, and cardiac arrest. AFE is a medical emergency and can be fatal for both the mother and baby.  Read More

Amoebiasis is an infection of the intestines caused by the parasite Entamoeba histolytica. It is a common cause of diarrhea and can lead to serious complications if left untreated. Symptoms may include abdominal pain, diarrhea, and bloody stools. Treatment typically involves antibiotics and antiparasitic medications.  Read More

Amoebiasis is an infection caused by a group of single-celled parasites called Entamoeba histolytica. These parasites are free-living amoebae, meaning they can survive and reproduce outside of a host organism. They are found in contaminated food and water, and can cause severe gastrointestinal illness when ingested. Symptoms of amoebiasis include abdominal pain, diarrhea, and bloody stools. Treatment typically involves antibiotics and antipara  Read More

Amoebic keratitis is an infection of the cornea caused by the amoeba Acanthamoeba. It is a rare but serious eye infection that can cause vision loss if left untreated. Symptoms of amoebic keratitis include redness, pain, light sensitivity, blurred vision, and a feeling of something in the eye. Treatment typically involves the use of topical and oral medications.  Read More

Amyloidosis is a rare condition in which abnormal proteins called amyloid build up in the body's organs and tissues. It can affect many different organs, including the heart, kidneys, liver, spleen, and nervous system. Symptoms vary depending on the organs affected, but can include fatigue, weight loss, and swelling in the legs and abdomen. Treatment typically involves medications to reduce inflammation and slow the progression of the disease.  Read More

Amyloidosis cutis dyschromia is a rare skin condition caused by the accumulation of amyloid proteins in the skin. It is characterized by patches of discolored skin, usually on the face, neck, and upper chest. The patches may be light or dark in color and may be itchy or painful. In some cases, the patches may become thickened and scaly. Treatment typically involves topical medications and lifestyle changes.  Read More

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. It is also known as Lou Gehrig's disease, after the famous baseball player who was diagnosed with the condition. ALS causes the death of motor neurons, which control voluntary muscle movement. As the motor neurons die, the brain's ability to initiate and control muscle movement is lost. This eventually leads  Read More

Amyotrophic lateral sclerosis type 4 (ALS4) is a rare form of amyotrophic lateral sclerosis (ALS), a progressive neurodegenerative disorder that affects the motor neurons in the brain and spinal cord. ALS4 is caused by mutations in the gene VAPB, which is involved in the formation of the protein VAPB. Symptoms of ALS4 include muscle weakness, difficulty speaking, difficulty swallowing, and difficulty breathing.  Read More

An anal fistula is a small tunnel that develops between the end of the bowel and the skin near the anus. It is usually the result of an infection in the area around the anus, such as an abscess. Anal fistulas can cause pain, discharge, and other symptoms. Treatment usually involves surgery to remove the fistula.  Read More

Anaplastic astrocytoma is a type of brain tumor that is classified as a grade III astrocytoma. It is a malignant tumor that is composed of cells that resemble astrocytes, a type of glial cell found in the brain. It is typically found in the cerebral hemispheres of the brain, but can also occur in the brain stem and spinal cord. Symptoms of anaplastic astrocytoma can include seizures, headaches, nausea, and vomiting. Treatment typically involve  Read More

Anaplastic ependymoma is a rare type of brain tumor that develops from cells that line the ventricles of the brain. It is a malignant tumor that can spread to other parts of the brain and spinal cord. Symptoms of anaplastic ependymoma can include headaches, seizures, and changes in vision, hearing, and balance. Treatment typically involves surgery, radiation therapy, and chemotherapy.  Read More

Anaplastic ganglioglioma is a rare type of brain tumor that is composed of both glial cells (astrocytes and oligodendrocytes) and neurons. It is usually found in the cerebral hemispheres of the brain, and is most commonly seen in children and young adults. It is considered a low-grade tumor, meaning that it grows slowly and is less likely to spread to other parts of the body. Treatment typically involves surgery to remove as much of the tumor  Read More

Anaplastic large cell lymphoma (ALCL) is a type of non-Hodgkin lymphoma, a cancer of the lymphatic system. ALCL is a rare type of lymphoma that usually affects the skin, lymph nodes, and other organs. It is characterized by the presence of large, abnormal cells that grow quickly and can spread to other parts of the body. Treatment typically involves chemotherapy, radiation, and/or surgery.  Read More

Anaplastic oligoastrocytoma is a type of brain tumor that is classified as a grade III astrocytoma. It is a rare type of tumor that is composed of both oligodendrocyte and astrocyte cells. It is usually found in the cerebral hemispheres of the brain, and it is usually found in adults. Symptoms of anaplastic oligoastrocytoma can include seizures, headaches, and changes in behavior. Treatment for this type of tumor typically involves surgery, ra  Read More

Anaplastic oligodendroglioma is a type of brain tumor that is composed of cells called oligodendrocytes. It is a rare type of cancer that usually occurs in the brain, but can also occur in the spinal cord. It is usually found in adults, but can also occur in children. Symptoms of anaplastic oligodendroglioma can include seizures, headaches, and changes in behavior. Treatment for this type of cancer typically involves surgery, radiation therapy  Read More

Anaplastic thyroid carcinoma (ATC) is a rare and aggressive form of thyroid cancer. It is characterized by the rapid growth of cancer cells that invade surrounding tissues and spread to other parts of the body. ATC is the most advanced form of thyroid cancer and is usually diagnosed in older adults. Treatment options are limited and the prognosis is poor.  Read More

Anaplastic/large cell medulloblastoma is a rare and aggressive type of brain tumor that affects the cerebellum, which is the part of the brain responsible for controlling movement and coordination. It is a malignant tumor that is composed of large, anaplastic cells. It is most commonly found in children and adolescents, and is usually treated with surgery, radiation, and chemotherapy.  Read More

Anauxetic dysplasia is a rare genetic disorder characterized by abnormal growth of the bones and joints. It is caused by mutations in the gene encoding the protein F-box and WD repeat domain containing 7 (FBXW7). Symptoms of anauxetic dysplasia include short stature, joint laxity, and skeletal deformities such as scoliosis, kyphosis, and bowed legs. Other features may include hearing loss, vision problems, and intellectual disability. Treatmen  Read More

Andersen Disease (GSD IV) is a rare inherited disorder that affects the body's ability to break down certain carbohydrates. It is caused by a deficiency of the enzyme alpha-1,4-glucosidase, which is responsible for breaking down glycogen, a type of sugar stored in the body. Symptoms of Andersen Disease include muscle weakness, enlarged liver and spleen, and an enlarged heart. It is usually diagnosed in infancy or early childhood. Treatment typ  Read More

Andersen-Tawil Syndrome (ATS) is a rare genetic disorder characterized by a combination of physical, neurological, and cardiac abnormalities. It is caused by mutations in the KCNJ2 gene, which is responsible for the production of the potassium channel protein. Symptoms of ATS can include muscle weakness, skeletal abnormalities, short stature, facial dysmorphism, cardiac arrhythmias, and intellectual disability. Treatment is focused on managing  Read More

ANE syndrome (also known as Aicardi-Goutières Syndrome) is a rare genetic disorder that affects the brain and immune system. It is characterized by neurological problems, such as seizures, developmental delays, and intellectual disability, as well as inflammation of the brain and spinal cord. It is caused by mutations in certain genes, and is usually diagnosed in infancy or early childhood.  Read More

Anemia of chronic disease (ACD) is a type of anemia that occurs when the body's inflammatory response to a chronic illness or infection interferes with the production of red blood cells. It is a common complication of many chronic diseases, including cancer, kidney disease, rheumatoid arthritis, and inflammatory bowel disease. Symptoms of ACD include fatigue, shortness of breath, pale skin, and dizziness. Treatment typically involves treating  Read More

Anemia, Hemolytic, Acquired Autoimmune is a type of anemia caused by the body's immune system attacking and destroying its own red blood cells. This type of anemia is usually caused by an autoimmune disorder, such as lupus or rheumatoid arthritis. Symptoms of this type of anemia include fatigue, pale skin, shortness of breath, and rapid heart rate. Treatment typically involves medications to suppress the immune system and/or to replace the los  Read More

Anemia, Hemolytic, Cold Antibody is a type of autoimmune hemolytic anemia, which is a condition in which the body's immune system mistakenly attacks and destroys its own red blood cells. This type of anemia is caused by the production of antibodies that react to red blood cells at temperatures below normal body temperature. This type of anemia can be caused by a variety of conditions, including certain infections, autoimmune diseases, and cert  Read More

Anemia, Hereditary Nonspherocytic Hemolytic (HNSH) is a type of anemia caused by a genetic defect that affects the body’s ability to produce healthy red blood cells. In this condition, red blood cells are destroyed faster than they can be replaced, leading to a decrease in the number of red blood cells in the body. Symptoms of HNSH include fatigue, pale skin, shortness of breath, and rapid heart rate. Treatment typically involves medications  Read More

Anemia, megaloblastic is a type of anemia caused by a deficiency of vitamin B12 or folate. It is characterized by the presence of large, immature red blood cells in the bloodstream. Symptoms of anemia, megaloblastic include fatigue, weakness, pale skin, shortness of breath, and a sore tongue. Treatment typically involves taking vitamin B12 or folate supplements and making dietary changes.  Read More

Anemia, Pernicious is a type of anemia caused by a lack of vitamin B12. It is caused by an inability to absorb vitamin B12 due to a lack of intrinsic factor, a protein produced in the stomach. Symptoms of Pernicious Anemia include fatigue, weakness, pale skin, shortness of breath, and a sore tongue. Treatment typically involves taking vitamin B12 supplements or receiving regular injections of the vitamin.  Read More

Anemias, Sideroblastic is a type of anemia caused by a defect in the production of hemoglobin, the protein in red blood cells that carries oxygen. This type of anemia is caused by a problem with the body's ability to absorb iron, which is necessary for the production of hemoglobin. Symptoms of this type of anemia include fatigue, pale skin, shortness of breath, and a rapid heart rate. Treatment typically involves taking iron supplements and av  Read More

Anencephaly is a rare birth defect in which a baby is born without parts of the brain and skull. It is a fatal condition and most babies with anencephaly die shortly after birth.  Read More

An aneurysm of the sinus of Valsalva is a bulge or ballooning of the wall of one of the three sinuses of Valsalva, which are located in the heart. It is a rare condition that can cause serious complications, including aortic regurgitation, aortic dissection, and even death. Symptoms may include chest pain, shortness of breath, and palpitations. Treatment may involve medications, surgery, or a combination of both.  Read More

Aneurysm-osteoarthritis syndrome is a rare genetic disorder characterized by aneurysms (weakened and bulging blood vessels) in the brain and/or spinal cord, as well as osteoarthritis (degenerative joint disease). It is caused by a mutation in the COL1A1 gene, which is responsible for producing collagen, a protein that helps form the structure of blood vessels and joints. Symptoms of the disorder can include headaches, seizures, vision problems  Read More

An aneurysmal bone cyst (ABC) is a rare, benign, expansile lesion of the bone that is characterized by a cystic cavity filled with blood. It is most commonly found in the long bones of the body, such as the femur, tibia, and humerus, but can also occur in the spine, pelvis, and other bones. ABCs are usually seen in children and young adults, and are more common in males than females. Treatment typically involves surgical removal of the cyst an  Read More

Angel-shaped phalango-epiphyseal dysplasia (APED) is a rare genetic disorder that affects the growth of bones in the hands and feet. It is characterized by short stature, short fingers and toes, and a distinctive angel-shaped appearance of the epiphyses (the ends of the long bones). Other features may include joint stiffness, scoliosis, and hearing loss. APED is caused by a mutation in the gene that codes for the enzyme lysyl hydroxylase-2 (LH  Read More

Angelman Syndrome is a rare genetic disorder that affects the nervous system. It is characterized by severe developmental delays, intellectual disability, speech impairment, and movement and balance disorders. People with Angelman Syndrome often have a happy demeanor, frequent laughter, and a tendency to be excitable. Other common features include seizures, sleep disturbances, and feeding difficulties.  Read More

Angelman syndrome is caused by a point mutation in the UBE3A gene, which is located on chromosome 15. This mutation results in the loss of function of the gene, which is responsible for the production of a protein called ubiquitin-protein ligase E3A. This protein is important for normal brain development and function.  Read More

Angelman syndrome is a genetic disorder caused by a defect in the imprinting process of the 15q11-q13 region of the genome. This region contains several genes that are important for normal brain development. When the imprinting process is disrupted, the genes are not expressed properly, leading to the characteristic features of Angelman syndrome.  Read More

Angelman syndrome is a genetic disorder caused by a deletion of a small piece of chromosome 15 in the region known as 15q11-q13. This deletion is usually inherited from the mother. The deletion results in the loss of several genes, which can lead to a wide range of physical and mental disabilities. Symptoms of Angelman syndrome include developmental delays, intellectual disability, seizures, sleep disturbances, and movement and balance problem  Read More

Angelman syndrome is a genetic disorder caused by a deletion of a small piece of chromosome 15, or by a mutation in the UBE3A gene located on the same chromosome. It is also caused by paternal uniparental disomy of chromosome 15, which is when both copies of chromosome 15 come from the father instead of one from the mother and one from the father.  Read More

Angiocentric glioma is a rare type of brain tumor that is typically found in children and young adults. It is a low-grade tumor that is slow-growing and usually benign. It is characterized by the presence of abnormal blood vessels that are surrounded by tumor cells. Symptoms of angiocentric glioma can include seizures, headaches, and changes in behavior. Treatment typically involves surgery to remove the tumor, followed by radiation and/or che  Read More

Angioimmunoblastic T-Cell Lymphoma (AITL) is a rare type of non-Hodgkin lymphoma (NHL) that affects the T-cells of the immune system. It is characterized by the presence of abnormal T-cells in the blood and lymph nodes, as well as an increase in the number of other immune cells, such as B-cells and macrophages. Symptoms of AITL include fever, night sweats, weight loss, and enlarged lymph nodes. Treatment typically involves chemotherapy and/or  Read More

Angiomatoid fibrous histiocytoma (AFH) is a rare type of soft tissue tumor that usually occurs in children and young adults. It is a benign tumor that is usually found in the arms, legs, or trunk. AFH is composed of a mixture of spindle cells, histiocytes, and blood vessels. It is usually treated with surgical excision, although some cases may require chemotherapy or radiation therapy.  Read More

Angioosteohypotrophic syndrome is a rare genetic disorder characterized by abnormal development of the blood vessels, bones, and muscles. It is caused by mutations in the PEX1 gene, which is responsible for the production of an enzyme called peroxisomal biogenesis factor 1. Symptoms of this disorder include skeletal abnormalities, hypotonia, and vascular malformations.  Read More

Angiosarcoma is a rare type of cancer that develops in the cells that line the blood vessels and lymph vessels. It is most commonly found in the skin, scalp, and soft tissues of the head and neck, but can also occur in other parts of the body. Symptoms of angiosarcoma may include a lump or swelling, pain, and bleeding. Treatment typically involves surgery, radiation, and chemotherapy.  Read More

Angiosarcoma of the scalp is a rare type of cancer that affects the scalp and other areas of the head. It is a malignant tumor that develops from the cells that line the blood vessels. Symptoms of angiosarcoma of the scalp include a lump or swelling on the scalp, scalp pain, and bleeding from the scalp. Treatment for angiosarcoma of the scalp typically involves surgery to remove the tumor, followed by radiation and/or chemotherapy.  Read More

Angiostrongyliasis is a parasitic infection caused by the roundworm Angiostrongylus cantonensis. It is also known as rat lungworm and is most commonly found in rodents, such as rats, and other animals, such as snails and slugs. Humans can become infected by eating raw or undercooked seafood, or by eating raw produce that has been contaminated with the larvae of the parasite. Symptoms of angiostrongyliasis can include fever, headache, nausea, v  Read More

Angora hair nevus is a rare skin condition characterized by the presence of fine, silky, and often curly hair on the face, neck, and upper chest. It is caused by an abnormal growth of hair follicles in the affected area. The condition is usually present at birth and is not associated with any other medical conditions.  Read More

Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome (AEO) is a rare genetic disorder characterized by a combination of ectodermal dysplasia, immunodeficiency, osteopetrosis, and lymphedema. Ectodermal dysplasia is a condition that affects the development of the skin, hair, nails, and sweat glands. Immunodeficiency is a weakened immune system that makes it difficult for the body to fight off infections. Osteopetro  Read More

Aniridia is a rare genetic disorder that affects the eyes. It is characterized by the partial or complete absence of the iris, the colored part of the eye. People with aniridia may experience decreased vision, sensitivity to light, and increased risk of developing glaucoma.  Read More

Aniridia Cerebellar Ataxia Mental Deficiency (ACAMD) is a rare genetic disorder characterized by the absence of the iris of the eye (aniridia), ataxia (poor coordination), mental deficiency, and other neurological problems. It is caused by a mutation in the PAX6 gene, which is responsible for the development of the eye and the brain. Symptoms of ACAMD can include poor coordination, difficulty walking, seizures, intellectual disability, and vis  Read More

Aniridia-absent patella syndrome is a rare genetic disorder characterized by the absence of the iris of the eye (aniridia), the absence of the kneecap (patella), and other physical abnormalities. It is caused by a mutation in the PAX6 gene, which is responsible for the development of the eye and other organs. Symptoms may include vision problems, skeletal abnormalities, and intellectual disability. Treatment is supportive and may include physi  Read More

Aniridia-intellectual disability syndrome is a rare genetic disorder that affects the eyes and the brain. It is characterized by the absence of the iris (the colored part of the eye) and intellectual disability. Other symptoms may include vision problems, seizures, and developmental delays.  Read More

Aniridia-ptosis-intellectual disability-familial obesity syndrome is a rare genetic disorder characterized by the presence of aniridia (absence of the iris of the eye), ptosis (drooping of the upper eyelid), intellectual disability, and familial obesity. It is caused by a mutation in the PAX6 gene, which is responsible for the development of the eye and brain. Symptoms of this disorder can vary from mild to severe, and may include vision probl  Read More

Aniridia-renal agenesis-psychomotor retardation syndrome (ARP) is a rare genetic disorder characterized by the absence of the iris of the eye (aniridia), the absence of one or both kidneys (renal agenesis), and delayed development of physical and mental skills (psychomotor retardation). It is caused by a mutation in the PAX2 gene. Symptoms may include vision problems, intellectual disability, seizures, and kidney problems. Treatment is based o  Read More

Anisakiasis is a parasitic infection caused by eating raw or undercooked fish or seafood that contains larvae of the Anisakis worm. Symptoms of anisakiasis include abdominal pain, nausea, vomiting, and diarrhea. In some cases, the larvae can cause an allergic reaction. Treatment typically involves the removal of the larvae through endoscopy or surgery.  Read More

ANK3-related intellectual disability-sleep disturbance syndrome is a rare genetic disorder caused by mutations in the ANK3 gene. It is characterized by intellectual disability, sleep disturbances, and other neurological features such as seizures, movement disorders, and behavioral problems. It is inherited in an autosomal dominant manner, meaning that only one copy of the mutated gene is necessary for a person to be affected by the disorder.  Read More

Ankyloblepharon filiforme adnatum-cleft palate syndrome (AFA-CP) is a rare genetic disorder characterized by the fusion of the eyelids, cleft palate, and other facial abnormalities. It is caused by a mutation in the TP63 gene, which is responsible for the development of the face and limbs. Symptoms of AFA-CP include fused eyelids, cleft palate, and a variety of other facial abnormalities. Other features may include hearing loss, developmental  Read More

Ankyloblepharon filiforme adnatum-imperforate anus syndrome (AFA-IA) is a rare genetic disorder characterized by the fusion of the eyelids, imperforate anus, and other physical anomalies. It is caused by a mutation in the TP63 gene. Symptoms may include fused eyelids, cleft lip and/or palate, malformed ears, and a variety of other physical anomalies. Affected individuals may also have intellectual disability, developmental delay, and/or behavi  Read More

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC syndrome) is a rare genetic disorder characterized by the presence of ankyloblepharon (fusion of the eyelids), ectodermal defects (abnormalities of the skin, hair, nails, and teeth), and cleft lip/palate. It is caused by a mutation in the TP63 gene, which is responsible for the development of the ectodermal structures. Symptoms of AEC syndrome can vary from person to person, but  Read More

Ankylosing vertebral hyperostosis with tylosis is a rare condition that affects the spine and can cause the vertebrae to fuse together. It is characterized by the formation of bone spurs (osteophytes) on the vertebrae, which can lead to a narrowing of the spinal canal (stenosis) and compression of the spinal cord and nerve roots. It can also cause pain and stiffness in the back and neck. In some cases, the condition can also cause tylosis, whi  Read More

Ankylostomiasis, also known as hookworm infection, is a parasitic infection caused by two species of hookworms, Ancylostoma duodenale and Necator americanus. It is most commonly found in tropical and subtropical regions, and is spread through contact with contaminated soil. Symptoms of ankylostomiasis include abdominal pain, diarrhea, anemia, and fatigue. Treatment typically involves medications to kill the parasites and iron supplements to tr  Read More

Annular atrophic lichen planus is a rare form of lichen planus, a chronic skin condition that causes an itchy, scaly rash. It is characterized by round, atrophic (thinned) patches of skin with a raised, scaly border. The rash may be red, purple, or brown in color. It is most commonly found on the arms, legs, and trunk, but can also occur on the face, scalp, and genitals. Treatment typically involves topical corticosteroids or other medications  Read More

Annular epidermolytic ichthyosis is a rare genetic skin disorder that is characterized by thick, scaly patches of skin that form on the body. The patches are usually red and may be itchy or painful. The condition is caused by a mutation in the keratin gene, which is responsible for producing proteins that make up the outer layer of the skin. Treatment typically involves topical medications and moisturizers to help reduce the symptoms.  Read More

Annular lichen planus is a type of skin condition that is characterized by raised, scaly, and itchy patches on the skin. It is caused by an autoimmune reaction, and it can affect any area of the body, including the scalp, nails, and mucous membranes. Treatment typically involves topical corticosteroids and antihistamines.  Read More

Anoctamin-5-related limb-girdle muscular dystrophy R12 is a rare, inherited disorder that affects the muscles. It is caused by mutations in the ANO5 gene, which is responsible for producing anoctamin-5, a protein involved in muscle contraction. Symptoms of this disorder include muscle weakness and wasting, especially in the hips and shoulders, as well as difficulty walking and breathing. In some cases, the disorder can also cause heart problem  Read More

Anodontia is a rare condition in which a person is born without any teeth. It is a congenital disorder, meaning it is present at birth. People with anodontia may have difficulty eating and speaking, and may require dentures or other dental prosthetics to replace the missing teeth.  Read More

Anomalous aortic origin of the left coronary artery (AAOLCA) is a rare congenital heart defect in which the left coronary artery arises from the aorta instead of the pulmonary artery. This can lead to decreased blood flow to the left side of the heart, which can cause chest pain, shortness of breath, and other symptoms. Treatment typically involves surgery to correct the defect.  Read More

Anomalous aortic origin of the right coronary artery (AAORCA) is a rare congenital heart defect in which the right coronary artery originates from the aorta instead of the left coronary artery. This can lead to decreased blood flow to the right side of the heart, which can cause chest pain, arrhythmias, and even sudden death. Treatment typically involves surgical repair of the defect.  Read More

Anomalous origin of coronary artery from the pulmonary artery (AOCA) is a rare congenital heart defect in which one of the coronary arteries arises from the pulmonary artery instead of the aorta. This can lead to decreased blood flow to the heart muscle, and can cause chest pain, shortness of breath, and even sudden death. Treatment typically involves surgery to reroute the coronary artery to its normal origin.  Read More

An anomaly of the mitral subvalvular apparatus is a congenital heart defect in which the mitral valve does not close properly due to an abnormal structure of the subvalvular apparatus. This can lead to a leaky mitral valve, which can cause blood to flow backward in the heart, leading to heart failure. Treatment for this condition typically involves surgery to repair the valve.  Read More

Anonychia congenita totalis is a rare genetic disorder characterized by the absence of all fingernails and toenails. It is caused by a mutation in the gene that is responsible for the formation of the nail bed. Symptoms of this disorder include the absence of fingernails and toenails, as well as the presence of small, white bumps on the fingertips and toes. In some cases, the affected person may also have a mild form of alopecia, or hair loss.  Read More

Anonychia with flexural pigmentation is a rare skin condition characterized by the absence of fingernails and toenails, along with darkening of the skin in the folds of the body, such as the armpits, groin, and neck. It is usually seen in children and is thought to be caused by a genetic mutation. Treatment is usually not necessary, but some people may benefit from topical creams or laser treatments to lighten the darkened skin.  Read More

Anonychia-microcephaly syndrome is a rare genetic disorder characterized by the absence of fingernails and toenails (anonychia) and a small head size (microcephaly). It is caused by a mutation in the gene that codes for the protein filamin A. Symptoms may also include intellectual disability, seizures, and facial abnormalities. Treatment is supportive and may include physical therapy, occupational therapy, and speech therapy.  Read More

Anonychia-onychodystrophy syndrome is a rare genetic disorder characterized by the absence of fingernails and toenails, as well as other nail abnormalities. It is caused by mutations in the gene that encodes the protein keratin 16. Symptoms of the disorder can include brittle nails, nail discoloration, and nail fragility. In some cases, the disorder can also cause hair loss, skin abnormalities, and joint problems.  Read More

Anophthalmia plus syndrome is a rare genetic disorder characterized by the absence of one or both eyes (anophthalmia) and a variety of other physical abnormalities. These can include malformations of the head and face, skeletal abnormalities, and heart defects. The syndrome is caused by a mutation in the SOX2 gene, which is involved in the development of the eyes and other organs.  Read More

Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome (AMCS) is a rare genetic disorder characterized by the absence of one or both eyes (anophthalmia), abnormally large corneas (megalocornea), heart defects (cardiopathy), and skeletal abnormalities. It is caused by a mutation in the PAX6 gene, which is responsible for the development of the eyes, heart, and skeleton. Symptoms of AMCS can vary from person to person, but may include  Read More

Anophthalmia/microphthalmia-esophageal atresia syndrome is a rare genetic disorder characterized by the absence of one or both eyes (anophthalmia/microphthalmia) and a birth defect of the esophagus (esophageal atresia). This disorder is caused by a mutation in the SOX2 gene. Symptoms may include feeding difficulties, respiratory problems, and developmental delays. Treatment typically involves surgery to repair the esophagus and may include the  Read More

Antecubital pterygium syndrome is a rare genetic disorder characterized by webbing of the skin between the elbow and wrist. It is caused by a mutation in the gene that codes for the protein fibronectin. Symptoms of the disorder include webbing of the skin, joint contractures, and abnormal bone development. In some cases, the webbing can be so severe that it restricts movement of the elbow and wrist. Treatment typically involves physical therap  Read More

Antenatal multiminicore disease with arthrogryposis multiplex congenita (AMC-AMC) is a rare genetic disorder that affects the development of the muscles and joints. It is characterized by multiple joint contractures (arthrogryposis) and a reduction in the number of muscle fibers (multiminicore). AMC-AMC is caused by a mutation in the SEPN1 gene, which is responsible for the production of a protein that helps to maintain the structure of muscle  Read More

Anterior cutaneous nerve entrapment syndrome (ACNES) is a condition that occurs when the anterior cutaneous nerve, a branch of the femoral nerve, becomes compressed or entrapped. This can cause pain, numbness, and tingling in the front of the thigh. It is most commonly caused by tight clothing, such as jeans or shorts, or by activities that involve repetitive flexion and extension of the hip, such as cycling or running. Treatment typically inv  Read More

Anterior maxillary protrusion-strabismus-intellectual disability syndrome is a rare genetic disorder characterized by a protrusion of the upper jaw, strabismus (crossed eyes), and intellectual disability. It is caused by a mutation in the GNAI3 gene, which is responsible for the development of the face and eyes. Symptoms may also include a wide nasal bridge, a long face, and a wide mouth. Treatment typically involves orthodontic braces to corr  Read More

Anthrax is a serious infectious disease caused by the bacterium Bacillus anthracis. It can affect both humans and animals, and can be spread through contact with infected animals or contaminated animal products. In humans, it can cause skin infections, gastrointestinal illness, and even death.  Read More

Anti-glomerular basement membrane disease (anti-GBM disease) is a rare autoimmune disorder in which the body's immune system mistakenly attacks the glomerular basement membrane (GBM), a thin layer of cells that lines the glomeruli in the kidneys. This attack causes inflammation and scarring of the glomeruli, leading to kidney failure. Symptoms of anti-GBM disease include proteinuria, hematuria, and edema. Treatment typically involves immunosup  Read More

Anti-HLA hyperimmunization is a process in which a person is exposed to high levels of antibodies against human leukocyte antigens (HLA). This process is used to induce tolerance to HLA antigens, which can be beneficial for people who need organ transplants. It is also used to treat autoimmune diseases such as rheumatoid arthritis and lupus.  Read More

Anti-p200 pemphigoid is a rare autoimmune skin disorder that is characterized by the formation of blisters and lesions on the skin. It is caused by the body's immune system attacking the proteins in the skin's basement membrane, which is the layer of cells that separates the epidermis from the dermis. Symptoms of anti-p200 pemphigoid include itchy, red, and scaly skin, as well as blisters and lesions that can be painful. Treatment for this con  Read More

Antiphospholipid Syndrome (APS) is an autoimmune disorder characterized by the presence of antiphospholipid antibodies in the blood. These antibodies can cause recurrent blood clots, miscarriages, and other health problems. APS can affect any organ system in the body, but it is most commonly associated with blood clots in the veins and arteries. Treatment typically involves anticoagulant medications and lifestyle modifications.  Read More

Antisynthetase Syndrome (AS) is a rare autoimmune disorder that affects the muscles and lungs. It is caused by an immune system that produces antibodies against certain aminoacyl-tRNA synthetases, which are enzymes that help the body make proteins. Symptoms of AS include muscle weakness, fatigue, joint pain, and inflammation of the lungs. In some cases, the disorder can also cause fever, skin rash, and Raynaud's phenomenon. Treatment for AS ty  Read More

Antithrombin deficiency is a rare inherited disorder that affects the body's ability to control blood clotting. People with this disorder have low levels of antithrombin, a protein that helps to prevent the formation of blood clots. Without enough antithrombin, blood clots can form in the veins and arteries, leading to serious health problems such as deep vein thrombosis, pulmonary embolism, and stroke. Treatment for antithrombin deficiency ty  Read More

Antley-Bixler Syndrome (ABS) is a rare genetic disorder that affects the development of the bones, joints, and other organs. It is characterized by skeletal malformations, including craniosynostosis (premature fusion of the skull bones), midface hypoplasia (underdevelopment of the midface), and choanal atresia (narrowing or blockage of the nasal passages). Other features may include cleft palate, hearing loss, eye abnormalities, and heart defe  Read More

Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis (ABS-GAD) is a rare genetic disorder characterized by skeletal malformations, genital anomalies, and a disorder of steroidogenesis. Skeletal malformations can include craniosynostosis, midface hypoplasia, and limb deformities. Genital anomalies can include ambiguous genitalia, hypospadias, and cryptorchidism. The disorder of steroidogenesis can cause a variety of endoc  Read More

Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis is a rare genetic disorder characterized by skeletal abnormalities, facial malformations, and respiratory and digestive problems. It is caused by mutations in the FGFR2 gene, which is involved in the development of bones and other tissues. Affected individuals may have malformed or missing bones in the skull, face, and limbs, as well as malformed or missing ribs. The  Read More

Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome is a rare genetic disorder characterized by a combination of aortic arch anomalies, facial dysmorphism, and intellectual disability. It is caused by a mutation in the gene encoding the transcription factor TBX1. Symptoms may include a wide range of physical and cognitive impairments, including heart defects, facial abnormalities, and intellectual disability. Treatment typi  Read More

Aortic arch interruption is a rare congenital heart defect in which the aortic arch, the main artery that carries oxygen-rich blood from the heart to the rest of the body, is interrupted or blocked. This can lead to a decrease in blood flow to the body and can cause serious health problems. Treatment typically involves surgery to repair the defect.  Read More

Aorto-left ventricular tunnel (ALVT) is a rare congenital heart defect in which a tunnel-like connection is formed between the aorta and the left ventricle of the heart. This connection allows oxygen-rich blood to flow from the aorta into the left ventricle, bypassing the lungs. This can lead to a decrease in oxygen levels in the body and can cause symptoms such as shortness of breath, fatigue, and chest pain. Treatment for ALVT typically invo  Read More

Aorto-right ventricular tunnel (ARVT) is a rare congenital heart defect in which a tunnel-like connection is formed between the aorta and the right ventricle of the heart. This connection allows oxygen-rich blood from the aorta to mix with oxygen-poor blood from the right ventricle, resulting in a decrease in oxygen levels in the body. ARVT can cause symptoms such as shortness of breath, fatigue, and chest pain. Treatment for ARVT typically in  Read More

Aorto-ventricular tunnel is a rare congenital heart defect in which a tunnel-like connection is formed between the aorta and the right ventricle of the heart. This connection allows oxygen-rich blood from the aorta to mix with oxygen-poor blood from the right ventricle, resulting in a decrease in oxygen levels in the body. Treatment for this condition typically involves surgery to close the tunnel and restore normal blood flow.  Read More

AP-4-Associated Hereditary Spastic Paraplegia (AP-4-HSP) is a rare, inherited neurological disorder that affects the nerves in the lower body. It is characterized by progressive spasticity and weakness of the legs, leading to difficulty walking. It is caused by mutations in the AP4B1 gene, which is involved in the transport of proteins within cells. Symptoms usually begin in childhood or adolescence and can range from mild to severe. Treatment  Read More

Attenuated familial adenomatous polyposis (AFAP) is a rare form of familial adenomatous polyposis (FAP) that is caused by a mutation in the APC gene. AFAP is characterized by the presence of fewer than 100 adenomatous polyps in the colon, which is fewer than the hundreds to thousands of polyps seen in classic FAP. People with AFAP are at an increased risk of developing colorectal cancer, but the risk is lower than that of classic FAP.  Read More

Apert Syndrome is a rare genetic disorder that affects the development of the skull, face, hands, and feet. It is caused by a mutation in the FGFR2 gene, which is responsible for the production of a protein that helps regulate the growth of bones and other tissues. Symptoms of Apert Syndrome include an abnormally shaped head, wide-set eyes, a beaked nose, and fusion of the fingers and toes. Other complications can include hearing loss, vision  Read More

Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome (AHUIDS) is a rare genetic disorder characterized by the absence of some or all of the fingers and toes (aphalangy), malformation of the vertebrae (hemivertebrae), malformation of the urinary and genital organs (urogenital), and malformation of the intestines (intestinal dysgenesis). It is caused by a mutation in the HOXD13 gene. Symptoms may include short stature, skeletal abno  Read More

Aphalangy-syndactyly-microcephaly syndrome (ASM) is a rare genetic disorder characterized by the absence of some or all of the fingers and toes (aphalangy), webbing of the fingers and toes (syndactyly), and a small head size (microcephaly). It is caused by a mutation in the gene that codes for the protein filamin A. Symptoms may also include intellectual disability, seizures, and vision and hearing problems. Treatment is symptomatic and may in  Read More

Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome is a rare genetic disorder that affects multiple systems of the body. It is characterized by aphonia (loss of voice), deafness, retinal dystrophy (degeneration of the retina), bifid halluces (split or cleft big toes), and intellectual disability. This disorder is caused by a mutation in the gene responsible for the production of a protein called elastin. Treatme  Read More

Aplasia cutis congenita (ACC) is a rare congenital disorder characterized by the absence of skin at birth. It is usually seen as a localized defect on the scalp, but can also occur on other parts of the body. The cause of ACC is unknown, but it is thought to be due to a disruption in the development of the skin during fetal development. Treatment for ACC depends on the size and location of the defect, but may include surgical closure, skin gra  Read More

Aplasia cutis congenita-intestinal lymphangiectasia syndrome is a rare genetic disorder characterized by the absence of skin (aplasia cutis congenita) at birth, intestinal lymphangiectasia, and a variety of other symptoms. Intestinal lymphangiectasia is a condition in which the lymphatic vessels in the intestine become abnormally dilated, leading to protein-losing enteropathy, malabsorption, and other digestive problems. Other symptoms associa  Read More

Aplasia cutis-myopia syndrome is a rare genetic disorder characterized by the absence of skin (aplasia cutis) on the scalp and/or forehead, and myopia (nearsightedness). It is caused by a mutation in the PAX6 gene, which is responsible for the development of the eyes and skin. Other symptoms may include hearing loss, cleft palate, and intellectual disability. Treatment typically involves surgical repair of the aplasia cutis and corrective lens  Read More

Aplasia of lacrimal and salivary glands is a rare congenital disorder in which the lacrimal and salivary glands do not develop properly. This condition can cause dry eyes and dry mouth, as well as difficulty swallowing and speaking. In some cases, the affected person may also have difficulty producing tears and saliva. Treatment typically involves artificial tears and saliva substitutes to help manage the symptoms.  Read More

Aplastic anemia is a rare and serious condition in which the body's bone marrow does not produce enough new blood cells. This can lead to a shortage of red blood cells, white blood cells, and platelets. Symptoms of aplastic anemia include fatigue, shortness of breath, easy bruising, and an increased risk of infection. Treatment for aplastic anemia may include blood transfusions, medications, and bone marrow or stem cell transplants.  Read More

Aplastic anemia-intellectual disability-dwarfism syndrome is a rare genetic disorder characterized by aplastic anemia (a condition in which the body does not produce enough new blood cells), intellectual disability, and dwarfism. It is caused by a mutation in the GATA2 gene, which is responsible for the production of a protein that helps regulate the production of blood cells. Symptoms of the disorder can include anemia, fatigue, pale skin, sh  Read More

Apnea of prematurity is a condition in which premature babies stop breathing for short periods of time. It is caused by an immature respiratory system and can be a sign of other health problems. It is usually treated with oxygen and/or medication.  Read More

Apnea, infantile is a condition in which an infant stops breathing for a period of time. It is most common in premature babies, but can also occur in full-term infants. Symptoms of infantile apnea include pauses in breathing, shallow breathing, and a decrease in oxygen levels in the blood. Treatment for infantile apnea may include oxygen therapy, medications, and in some cases, surgery.  Read More

Apodia is a software platform designed to help businesses manage their customer relationships. It provides a suite of tools to help businesses track customer interactions, manage customer data, and automate customer service processes. Apodia also offers analytics and reporting capabilities to help businesses gain insights into customer behavior and preferences.  Read More

Apolipoprotein A-I deficiency is a rare genetic disorder that affects the body's ability to metabolize fats. It is caused by a mutation in the APOA1 gene, which is responsible for producing the apolipoprotein A-I protein. This protein is essential for the formation of high-density lipoproteins (HDLs), which are responsible for transporting cholesterol and other fats away from the arteries and back to the liver for processing. People with Apoli  Read More

Apparent mineralocorticoid excess (AME) is a rare genetic disorder that affects the body's ability to regulate salt and water balance. It is caused by a mutation in the gene that codes for the enzyme 11-beta-hydroxysteroid dehydrogenase type 2 (11-beta-HSD2). This enzyme normally helps to convert cortisol, a hormone produced by the adrenal glands, into cortisone, which is inactive. In people with AME, the enzyme does not work properly, leading  Read More

Appendiceal cancer and tumors are a type of cancer that affects the appendix, a small organ located in the lower right side of the abdomen. Appendiceal cancer is a rare form of cancer, accounting for less than 1% of all cancers in the United States. Appendiceal tumors can be benign (non-cancerous) or malignant (cancerous). Malignant tumors can spread to other parts of the body and can be life-threatening. Treatment for appendiceal cancer and t  Read More

Apraxia is a neurological disorder that affects a person's ability to plan and execute motor tasks. It is caused by damage to the parts of the brain that control movement, and can affect a person's ability to speak, write, and perform other motor tasks. People with apraxia may have difficulty forming words, speaking in a normal rhythm, and coordinating their movements.  Read More

Aprosencephaly is a rare congenital disorder in which the forebrain of the embryo fails to develop properly. It is a type of cephalic disorder, which is a disorder of the head and brain. Symptoms of aprosencephaly include the absence of a forebrain, a single-lobed brain, and the fusion of the eyes. This condition is usually fatal and is usually diagnosed during pregnancy.  Read More

Aprosencephaly cerebellar dysgenesis is a rare congenital disorder characterized by the absence of the forebrain and cerebellum. It is a severe form of brain malformation that is usually fatal. Symptoms may include seizures, developmental delays, and hydrocephalus. Treatment is supportive and may include medications to control seizures and physical and occupational therapy to help with motor skills.  Read More

Aprosencephaly/atelencephaly spectrum is a group of rare congenital disorders that affect the development of the brain. It is characterized by the absence of a forebrain (the part of the brain responsible for higher functions such as thought, memory, and emotion) and the presence of a single-lobed brainstem. This spectrum of disorders includes aprosencephaly, atelencephaly, and septo-optic dysplasia. Symptoms vary depending on the severity of  Read More

Aquagenic palmoplantar keratoderma is a rare skin condition characterized by the development of thick, scaly patches on the palms and soles of the feet after contact with water. It is thought to be caused by an abnormal response of the sweat glands to water, resulting in an excessive production of keratin. Symptoms may include itching, burning, and pain. Treatment typically involves the use of topical medications and lifestyle modifications.  Read More

Arachnodactyly-abnormal ossification-intellectual disability syndrome is a rare genetic disorder characterized by the presence of arachnodactyly (long, thin fingers and toes), abnormal ossification (abnormal bone formation), and intellectual disability. It is caused by a mutation in the FBN2 gene, which is responsible for the production of the protein fibrillin-2. Symptoms of the disorder can vary from mild to severe and may include skeletal a  Read More

Arachnodactyly-intellectual disability-dysmorphism syndrome is a rare genetic disorder characterized by the presence of spider-like fingers and toes (arachnodactyly), intellectual disability, and dysmorphic facial features. It is caused by a mutation in the gene encoding the protein filamin A. Symptoms may include long fingers and toes, a long and narrow face, a prominent forehead, and a small chin. Other features may include a high-arched pal  Read More

An arachnoid cyst is a type of cyst that forms in the arachnoid membrane, which is one of the three layers of tissue that cover the brain and spinal cord. Arachnoid cysts are usually filled with cerebrospinal fluid (CSF) and can range in size from a few millimeters to several centimeters. They are usually benign and asymptomatic, but can cause a variety of neurological symptoms depending on their size and location. Treatment options include ob  Read More

Arachnoid cysts are cerebrospinal fluid-filled sacs that form between the brain and the arachnoid membrane, one of the three membranes that cover the brain and spinal cord. They are usually benign and asymptomatic, but can cause neurological symptoms if they become large enough to press on the brain or spinal cord. Treatment is usually not necessary, but may include surgery if the cyst is causing symptoms.  Read More

Arachnoiditis is a rare, chronic, and often debilitating neurological disorder caused by inflammation of the arachnoid, one of the membranes that surround and protect the nerves of the spinal cord. Symptoms of arachnoiditis can include pain, numbness, tingling, muscle weakness, and bladder and bowel dysfunction. Treatment typically involves medications, physical therapy, and lifestyle changes.  Read More

AREDYLD syndrome is a rare genetic disorder characterized by intellectual disability, seizures, and delayed development. It is caused by a mutation in the AREDYLD gene, which is responsible for the production of a protein involved in the development of the nervous system. Symptoms of AREDYLD syndrome can include delayed speech and language development, poor motor skills, and behavioral problems.  Read More

Regenerative anemia is a type of anemia in which the body is unable to produce enough red blood cells to replace those that are lost. This type of anemia is caused by a decrease in the production of red blood cells in the bone marrow, which is the spongy tissue inside the bones where red blood cells are made. Symptoms of regenerative anemia include fatigue, pale skin, shortness of breath, and dizziness. Treatment for regenerative anemia typica  Read More

Argentine hemorrhagic fever (AHF) is a rare and potentially fatal viral disease caused by the Junin virus, a member of the Arenaviridae family. It is found in rural areas of Argentina, where it is spread by contact with infected rodents. Symptoms of AHF include fever, headache, nausea, vomiting, abdominal pain, and a rash. In severe cases, the virus can cause bleeding from the nose, mouth, and other body parts. Treatment includes supportive ca  Read More

Arginase-1 deficiency is a rare genetic disorder caused by a mutation in the arginase-1 gene. This gene is responsible for producing the enzyme arginase-1, which is necessary for the body to break down the amino acid arginine. Without this enzyme, arginine builds up in the body, leading to a variety of symptoms including intellectual disability, seizures, and movement disorders. Treatment for arginase-1 deficiency typically involves dietary ch  Read More

Argininemia is an inherited metabolic disorder caused by a deficiency of the enzyme arginase. This enzyme is responsible for breaking down the amino acid arginine, which is essential for normal growth and development. People with argininemia are unable to break down arginine, leading to a buildup of the amino acid in the body. Symptoms of argininemia can include poor growth, intellectual disability, seizures, and liver and kidney problems. Tre  Read More

Argininie Glycine Amidinotransferase Deficiency (AGAT Deficiency) is a rare genetic disorder caused by a deficiency of the enzyme arginine glycine amidinotransferase (AGAT). AGAT is responsible for the production of creatine, an important molecule for energy production in the body. People with AGAT Deficiency have reduced levels of creatine in their bodies, which can lead to a variety of neurological and physical symptoms. Symptoms may include  Read More

Argininosuccinic aciduria (ASA) is an inherited metabolic disorder caused by a deficiency of the enzyme argininosuccinate lyase. This enzyme is responsible for breaking down the amino acid arginine, which is essential for normal growth and development. People with ASA are unable to break down arginine, leading to a buildup of argininosuccinic acid in the body. Symptoms of ASA include poor growth, vomiting, seizures, and intellectual disability  Read More

Argyria is a rare condition caused by long-term exposure to silver. It is characterized by a blue-gray discoloration of the skin, eyes, and mucous membranes. It is caused by the accumulation of silver particles in the body, which can be ingested through contaminated food or water, or inhaled through silver dust.  Read More

Arnold-Chiari malformation type I is a congenital disorder in which the lower part of the brain, the cerebellum, is displaced downward into the upper spinal canal. This displacement can cause a variety of symptoms, including headaches, dizziness, difficulty swallowing, and problems with balance and coordination. In some cases, it can also lead to hydrocephalus, a condition in which fluid accumulates in the brain. Treatment for Arnold-Chiari ma  Read More

Arnold-Chiari malformation type II is a rare neurological disorder caused by a structural defect in the brain. It is characterized by a downward displacement of the cerebellar tonsils through the foramen magnum (the opening at the base of the skull). This displacement can cause a variety of symptoms, including difficulty swallowing, poor coordination, and breathing problems. In some cases, it can also lead to hydrocephalus (an accumulation of  Read More

Aromatase deficiency is a rare genetic disorder caused by a mutation in the CYP19A1 gene. This gene is responsible for producing the enzyme aromatase, which is responsible for converting androgens (male hormones) into estrogens (female hormones). People with aromatase deficiency have low levels of estrogen, which can lead to a variety of physical and psychological symptoms. Symptoms may include delayed or incomplete puberty, infertility, and a  Read More

Aromatase excess syndrome is a rare genetic disorder caused by a mutation in the CYP19A1 gene. This gene encodes the enzyme aromatase, which is responsible for the production of the hormone estrogen. People with this disorder have an excess of estrogen in their bodies, which can lead to a variety of symptoms, including early puberty, infertility, and an increased risk of certain types of cancer.  Read More

Aromatic L-Amino Acid Decarboxylase Deficiency (AADC Deficiency) is a rare genetic disorder caused by a deficiency of the enzyme aromatic L-amino acid decarboxylase (AADC). This enzyme is responsible for the conversion of the amino acid L-dopa into dopamine, which is a neurotransmitter that plays an important role in movement, learning, and behavior. AADC Deficiency can cause a wide range of symptoms, including developmental delays, movement d  Read More

Arrhinia-choanal atresia-microphthalmia syndrome is a rare genetic disorder characterized by the presence of two or more birth defects. It is characterized by choanal atresia (a blockage of the nasal passage), microphthalmia (abnormally small eyes), and arrhinia (absence of the nose). Other features may include hearing loss, cleft palate, and heart defects.  Read More

Arterial dissection-lentiginosis syndrome is a rare genetic disorder characterized by the presence of multiple arterial dissections and lentigines (dark spots on the skin). It is caused by a mutation in the gene encoding the protein elastin, which is responsible for the elasticity of the arteries. Symptoms of the disorder include stroke, headache, abdominal pain, and vision problems. Treatment typically involves medications to reduce the risk  Read More

Arterial thoracic outlet syndrome (TOS) is a condition caused by compression of the nerves and/or blood vessels in the thoracic outlet, which is the area between the collarbone and the first rib. Symptoms of TOS can include pain in the neck, shoulder, and arm, numbness and tingling in the fingers, and weakness in the arm. Treatment for TOS may include physical therapy, medications, and in some cases, surgery.  Read More

Arterial Tortuosity Syndrome (ATS) is a rare genetic disorder that affects the arteries of the body. It is characterized by an abnormal twisting and elongation of the arteries, which can lead to an increased risk of aneurysms, strokes, and other vascular complications. ATS is caused by a mutation in the gene that codes for the protein elastin, which is responsible for the elasticity of the arteries. Symptoms of ATS can include headaches, dizzi  Read More

Arteriovenous malformation (AVM) is a rare disorder in which abnormal tangles of blood vessels form in the body. These tangles can disrupt the normal flow of blood and can cause a variety of symptoms, including seizures, headaches, and stroke. AVMs can occur anywhere in the body, but are most commonly found in the brain and spinal cord. Treatment options for AVMs include surgery, radiation therapy, and embolization.  Read More

Arteritis Takayasu is a rare autoimmune disorder that causes inflammation of the aorta and its branches. It is also known as Takayasu arteritis or Takayasu's disease. Symptoms of the condition can include high blood pressure, chest pain, headaches, and vision problems. Treatment typically involves medications to reduce inflammation and prevent further damage to the arteries.  Read More

Arthritis, infectious is a type of arthritis caused by an infection. It is usually caused by bacteria, viruses, or fungi. Symptoms of infectious arthritis include joint pain, swelling, redness, and warmth. Treatment typically involves antibiotics or antifungal medications to clear the infection, as well as anti-inflammatory medications to reduce pain and swelling.  Read More

Arthritis, psoriatic is a type of inflammatory arthritis that affects some people who have psoriasis, a chronic skin condition. It is an autoimmune disorder, meaning that the body’s immune system mistakenly attacks healthy tissue. Symptoms of psoriatic arthritis include joint pain, stiffness, swelling, and tenderness. It can also cause fatigue, eye inflammation, and nail changes. Treatment typically involves medications, physical therapy, an  Read More

Arthrochalasia Ehlers-Danlos syndrome (EDS) is a rare inherited connective tissue disorder that affects the skin, joints, and blood vessels. It is characterized by joint hypermobility, skin hyperextensibility, and fragile skin that bruises easily. People with this condition may also have a high risk of developing complications such as joint dislocations, scoliosis, and arterial and intestinal ruptures.  Read More

Arthrogryposis Multiplex Congenita (AMC) is a rare congenital disorder characterized by multiple joint contractures (stiffness) and muscle weakness. It is caused by abnormal development of the fetus in the womb, resulting in limited movement of the joints. Symptoms vary from person to person and can range from mild to severe. Treatment typically includes physical therapy, occupational therapy, and sometimes surgery.  Read More

Arthrogryposis multiplex congenita-whistling face syndrome is a rare genetic disorder that affects the development of muscles and joints. It is characterized by multiple joint contractures, which cause limited movement in the affected areas, as well as a distinctive facial appearance, which includes a whistling sound when the person breathes. The cause of this disorder is unknown, but it is believed to be caused by a combination of genetic and  Read More

Arthrogryposis-anterior horn cell disease syndrome is a rare neurological disorder that affects the muscles and joints. It is caused by a lack of nerve cells in the anterior horn of the spinal cord, which results in muscle weakness and joint stiffness. Symptoms can vary from person to person, but may include joint contractures, muscle weakness, and decreased range of motion. Treatment typically involves physical therapy, occupational therapy,  Read More

Arthrogryposis-ectodermal dysplasia syndrome (AEDS) is a rare genetic disorder that affects the development of the bones, muscles, and skin. It is characterized by joint contractures, abnormal skin, and hair, and nail abnormalities. It is caused by a mutation in the gene that codes for the protein filaggrin, which is involved in the formation of the skin barrier. AEDS can cause a wide range of physical and developmental disabilities, including  Read More

Arthrogryposis-hyperkeratosis syndrome, lethal form is a rare genetic disorder that affects the development of the bones and skin. It is characterized by multiple joint contractures, thickening of the skin, and a variety of other physical abnormalities. Affected individuals typically die shortly after birth due to respiratory failure.  Read More

Arthrogryposis-like hand anomaly-sensorineural deafness syndrome is a rare genetic disorder characterized by the presence of a hand anomaly similar to arthrogryposis, as well as sensorineural deafness. It is caused by a mutation in the GJB2 gene, which is responsible for the production of a protein called connexin 26. This protein is important for the normal functioning of the inner ear and the development of the hands. Symptoms of this disord  Read More

Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome (AOLES) is a rare genetic disorder characterized by multiple joint contractures, oculomotor limitation, and electroretinal anomalies. Affected individuals typically have limited movement of the eyes, including difficulty in looking up and down, and difficulty in focusing on objects. They may also have reduced vision, including decreased color vision, and difficulty in adapt  Read More

Arthrogryposis-renal dysfunction-cholestasis syndrome (ARC) is a rare genetic disorder that affects the development of the muscles, kidneys, and liver. It is characterized by joint contractures, kidney dysfunction, and cholestasis (a condition in which bile cannot flow properly from the liver). Symptoms may include joint stiffness, muscle weakness, poor growth, and liver problems. Treatment typically involves physical therapy, medications, and  Read More

Arthrogryposis-severe scoliosis syndrome is a rare genetic disorder that affects the development of the bones and muscles in the body. It is characterized by joint contractures, severe scoliosis, and muscle weakness. It can cause a variety of physical disabilities, including difficulty walking, difficulty with fine motor skills, and difficulty with speech. Treatment typically includes physical therapy, bracing, and surgery.  Read More

ASAH1-Related Disorders is a group of rare genetic disorders caused by mutations in the ASAH1 gene. These disorders are characterized by a range of neurological symptoms, including intellectual disability, seizures, and movement disorders. They can also cause vision and hearing problems, as well as other physical and behavioral issues. Treatment for ASAH1-Related Disorders is based on the individual symptoms and may include medications, physic  Read More

Asbestos intoxication is a condition caused by the inhalation of asbestos fibers. It is a form of poisoning that can lead to serious health problems, including lung cancer, mesothelioma, and asbestosis. Symptoms of asbestos intoxication include coughing, chest pain, shortness of breath, and difficulty breathing.  Read More

Ascher syndrome is a rare neurological disorder characterized by the combination of spastic diplegia (a form of cerebral palsy) and oculomotor apraxia (a disorder of eye movement). It is caused by a mutation in the gene that codes for the protein kinase C gamma (PKCγ). Symptoms of Ascher syndrome include difficulty with eye movements, muscle spasms, and developmental delays.  Read More

Asherman syndrome is a condition in which the walls of the uterus become scarred and fused together. This can lead to infertility, recurrent miscarriages, and other complications. It is usually caused by damage to the uterine lining due to surgery, infection, or trauma. Treatment typically involves surgery to remove the scar tissue and restore the normal anatomy of the uterus.  Read More

Asherman's Syndrome is a condition in which the uterine walls become scarred and adhered to each other, resulting in the formation of bands of scar tissue. This can lead to infertility, recurrent miscarriages, and other complications. It is usually caused by trauma to the uterus, such as from a D&C (dilation and curettage) procedure, or from infection. Treatment typically involves surgery to remove the scar tissue.  Read More

There is no cure for Ashersona's Syndrome, but medications can be used to help manage symptoms. These medications may include stimulants, antidepressants, antipsychotics, and mood stabilizers. It is important to work with a doctor to find the best medication and dosage for each individual.  Read More

Aspartylglucosaminuria (AGU) is a rare genetic disorder caused by a deficiency of the enzyme aspartylglucosaminidase. This enzyme is responsible for breaking down certain proteins in the body, and when it is deficient, these proteins accumulate in the body and cause a variety of symptoms. Symptoms of AGU can include intellectual disability, seizures, poor muscle tone, and behavioral problems.  Read More

Aspartylglycosaminuria (AGU) is a rare inherited metabolic disorder caused by a deficiency of the enzyme aspartylglucosaminidase. It is characterized by the accumulation of certain complex carbohydrates in the body, which can lead to physical and mental disabilities. Symptoms of AGU include developmental delays, intellectual disability, seizures, and behavioral problems.  Read More

Aspergillosis is a type of fungal infection caused by the fungus Aspergillus. It can affect both humans and animals, and can range from mild to life-threatening. Symptoms vary depending on the type of infection, but may include coughing, chest pain, fever, and difficulty breathing. Treatment typically involves antifungal medications.  Read More

Asphyxiating thoracic dystrophy (ATD), also known as Jeune syndrome, is a rare genetic disorder that affects the development of the chest and abdomen. It is characterized by a narrow chest cavity, short ribs, and a small abdomen. This can lead to difficulty breathing, as well as other complications. ATD is caused by a mutation in the IFT80 gene, and is inherited in an autosomal recessive pattern. Treatment typically involves surgery to correct  Read More

Asphyxiating thoracic dystrophy (Jeune Syndrome) is a rare genetic disorder that affects the development of the chest and abdomen. It is characterized by a narrow chest cavity, short ribs, and a protruding abdomen. This condition can lead to respiratory and digestive problems, as well as other complications. It is caused by a mutation in the IFT80 gene. Treatment typically involves surgery to correct the chest and abdomen deformities, as well  Read More

Astley-Kendall dysplasia is a rare genetic disorder characterized by skeletal abnormalities, including short stature, joint contractures, and scoliosis. It is caused by a mutation in the gene encoding the protein filamin A. Symptoms usually appear in infancy or early childhood and can include delayed motor development, hearing loss, and intellectual disability. Treatment is supportive and may include physical therapy, occupational therapy, and  Read More

Astroblastoma is a rare type of brain tumor that is composed of star-shaped cells. It is a type of glioma, which is a type of tumor that arises from the supportive tissue of the brain. Astroblastoma is most commonly found in children and young adults. Symptoms of astroblastoma can include seizures, headaches, and changes in behavior. Treatment for astroblastoma typically involves surgery, radiation therapy, and chemotherapy.  Read More

Astrocytoma is a type of brain tumor that begins in the astrocytes, a type of glial cell in the brain. Astrocytomas can be either low-grade (grade I or II) or high-grade (grade III or IV). Low-grade astrocytomas tend to grow slowly and may not cause symptoms for a long time. High-grade astrocytomas grow quickly and can spread to other parts of the brain or spinal cord. Treatment for astrocytomas depends on the type and grade of the tumor, as w  Read More

Ataxia telangiectasia (AT) is a rare, inherited, neurodegenerative disorder that affects the nervous system, immune system, and other body systems. It is characterized by progressive difficulty with balance and coordination, telangiectasias (dilated blood vessels) on the skin and eyes, and a weakened immune system. Other symptoms may include difficulty speaking, hearing loss, and recurrent infections. AT is caused by a mutation in the ATM gene  Read More

Ataxia with Vitamin E Deficiency (AVED) is a rare, inherited disorder caused by a deficiency of the vitamin E. It is characterized by progressive difficulty with coordination and balance, as well as muscle weakness and vision problems. People with AVED may also experience difficulty with speech, swallowing, and other activities of daily living. Treatment typically involves taking a daily supplement of vitamin E, as well as physical and occupat  Read More

Ataxia-deafness-intellectual disability syndrome (ADID) is a rare genetic disorder characterized by progressive ataxia (loss of coordination), hearing loss, and intellectual disability. It is caused by a mutation in the GJB2 gene, which is responsible for the production of a protein called connexin 26. This protein is important for the normal functioning of the inner ear and the brain. Symptoms of ADID usually appear in early childhood and can  Read More

Ataxia-hypogonadism-choroidal dystrophy syndrome is a rare genetic disorder characterized by a combination of ataxia (lack of muscle coordination), hypogonadism (underdeveloped reproductive organs), and choroidal dystrophy (a degenerative eye disorder). It is caused by a mutation in the gene that codes for the protein ATXN1. Symptoms of this disorder can include difficulty walking, poor coordination, delayed puberty, vision problems, and intel  Read More

Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome (AICC) is a rare genetic disorder characterized by intellectual disability, ataxia, oculomotor apraxia, and cerebellar cysts. It is caused by a mutation in the gene encoding the protein ataxin-2. Symptoms of AICC include delayed development, poor coordination, difficulty with balance and walking, and poor eye movements. Other features may include seizures, hearing loss  Read More

Ataxia-oculomotor apraxia type 1 (AOA1) is a rare, inherited neurological disorder that affects the brain and nervous system. It is characterized by progressive ataxia (lack of muscle coordination), oculomotor apraxia (inability to move the eyes in a coordinated manner), and cognitive impairment. People with AOA1 may also experience seizures, difficulty speaking, and difficulty walking. There is currently no cure for AOA1, but treatments are a  Read More

Ataxia-oculomotor apraxia type 4 (AOA4) is a rare, inherited neurological disorder caused by mutations in the SETX gene. It is characterized by progressive ataxia (lack of muscle coordination) and oculomotor apraxia (inability to move the eyes in a coordinated manner). Other symptoms may include difficulty speaking, swallowing, and walking, as well as seizures and cognitive impairment. AOA4 is a progressive disorder, meaning that symptoms wors  Read More

Ataxia-pancytopenia syndrome is a rare genetic disorder characterized by a combination of ataxia (lack of muscle coordination) and pancytopenia (low levels of all types of blood cells). It is caused by mutations in the gene encoding the enzyme adenosine deaminase 2 (ADA2). Symptoms of the disorder include developmental delay, intellectual disability, seizures, and vision and hearing problems.  Read More

Ataxia-photosensitivity-short stature syndrome (APSS) is a rare genetic disorder characterized by ataxia (lack of muscle coordination), photosensitivity (sensitivity to light), and short stature. It is caused by a mutation in the ATXN2 gene, which is responsible for producing a protein called ataxin-2. Symptoms of APSS can include difficulty walking, poor balance, difficulty speaking, seizures, and vision problems. Other symptoms may include h  Read More

Ataxia-tapetoretinal degeneration syndrome (ATD) is a rare genetic disorder that affects the eyes and nervous system. It is characterized by progressive vision loss, ataxia (lack of muscle coordination), and retinal degeneration. Symptoms usually begin in childhood and can include difficulty with balance, coordination, and vision. Other symptoms may include hearing loss, seizures, and intellectual disability. Treatment is supportive and may in  Read More

Ataxia-telangiectasia variant (ATV) is a rare genetic disorder that is characterized by a combination of neurological and immunological symptoms. It is caused by a mutation in the ATM gene, which is responsible for the production of a protein that helps to regulate cell division and repair damaged DNA. Symptoms of ATV include ataxia (lack of muscle coordination), telangiectasia (dilated blood vessels), and immunodeficiency (weakened immune sys  Read More

Ataxia-telangiectasia-like disorder (ATLD) is a rare genetic disorder that is characterized by progressive neurological problems, including ataxia (loss of muscle coordination), telangiectasia (dilated blood vessels), and immunodeficiency. It is caused by mutations in the ATM gene, which is responsible for producing a protein that helps regulate the cell cycle and DNA repair. Symptoms of ATLD can include difficulty walking, poor balance, slurr  Read More

Atelencephaly is a rare and fatal neurological disorder that is characterized by the absence of a large portion of the brain, including the cerebrum and cerebellum. It is a type of anencephaly, a disorder in which the brain does not develop properly in the womb. Babies born with atelencephaly typically have a short life expectancy and may suffer from seizures, breathing difficulties, and other medical complications.  Read More

Atelosteogenesis type I is a rare genetic disorder that affects the development of bones in the body. It is caused by a mutation in the SLC26A2 gene, which is responsible for the production of a protein called anion exchanger 2. This protein is important for the development of bones, and when it is not produced correctly, it can lead to the formation of abnormal bones. Symptoms of Atelosteogenesis type I include short stature, joint contractur  Read More

Atelosteogenesis type II is a rare genetic disorder that affects the development of bones in the body. It is caused by a mutation in the SLC26A2 gene, which is responsible for the production of a protein called anion exchanger 2. This protein is important for the development of bones and cartilage. Symptoms of Atelosteogenesis type II include short stature, joint contractures, and skeletal malformations. In some cases, affected individuals may  Read More

Atelosteogenesis type III is a rare genetic disorder that affects the development of bones in the body. It is caused by a mutation in the SLC26A2 gene, which is responsible for the production of a protein called anion exchanger 2. This protein is important for the development of bones, and when it is not produced correctly, it can lead to skeletal abnormalities such as short stature, joint contractures, and malformed bones. In some cases, the  Read More

Athabaskan brainstem dysgenesis syndrome (ABDS) is a rare genetic disorder that affects the development of the brainstem. It is characterized by a range of neurological symptoms, including hypotonia, developmental delay, seizures, and craniofacial abnormalities. It is caused by a mutation in the gene FOXC1.  Read More

Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome is a rare genetic disorder characterized by a combination of atherosclerosis (hardening of the arteries), deafness, diabetes, epilepsy, and nephropathy (kidney disease). It is caused by a mutation in the gene encoding the protein apolipoprotein B-100. Symptoms of the disorder can include hearing loss, seizures, kidney failure, and stroke. Treatment typically involves lifestyle mod  Read More

Athyreosis is a rare medical condition in which the thyroid gland fails to develop properly during fetal development. It is characterized by the absence of the thyroid gland, which can lead to a variety of symptoms, including growth retardation, mental retardation, and hypothyroidism. Treatment typically involves hormone replacement therapy.  Read More

Atkin-Flaitz syndrome is a rare genetic disorder characterized by intellectual disability, seizures, and facial abnormalities. It is caused by a mutation in the gene that codes for the enzyme dihydropyrimidine dehydrogenase (DPD). Symptoms of Atkin-Flaitz syndrome can include developmental delays, intellectual disability, seizures, facial abnormalities, and skeletal abnormalities.  Read More

Atopic keratoconjunctivitis is a chronic, inflammatory eye condition that affects the cornea and conjunctiva. It is a type of allergic eye disease that is caused by an allergic reaction to environmental allergens such as pollen, dust mites, and animal dander. Symptoms of atopic keratoconjunctivitis include redness, itching, burning, tearing, and blurred vision. Treatment typically involves the use of anti-inflammatory medications, lubricating  Read More

ATP13A2-related juvenile neuronal ceroid lipofuscinosis (also known as Kufor-Rakeb Syndrome) is a rare, inherited, neurodegenerative disorder that affects the nervous system. It is caused by mutations in the ATP13A2 gene, which is responsible for the production of a protein that helps regulate the transport of molecules in and out of cells. Symptoms of this disorder typically begin in early childhood and include seizures, intellectual disabili  Read More

ATR-16 Syndrome is a rare genetic disorder caused by a mutation in the ATR gene. It is characterized by intellectual disability, developmental delays, and a variety of physical abnormalities. People with ATR-16 Syndrome may have difficulty with speech, motor skills, and social interaction. They may also have seizures, vision and hearing problems, and skeletal abnormalities. Treatment for ATR-16 Syndrome is supportive and may include physical,  Read More

Atransferrinemia is a rare inherited disorder in which the body is unable to produce enough of the iron-binding protein transferrin. This protein is responsible for transporting iron throughout the body, and without it, iron levels can become dangerously high. Symptoms of atransferrinemia include anemia, fatigue, and organ damage. Treatment typically involves iron chelation therapy and dietary changes.  Read More

Atresia of the urethra is a rare congenital disorder in which the urethra is abnormally closed or absent. This condition can occur in both males and females, but is more common in males. In males, the urethra is the tube that carries urine from the bladder to the outside of the body. In females, the urethra is the tube that carries urine from the bladder to the vagina. In both cases, the urethra is necessary for normal urination. When the uret  Read More

Atrial septal aneurysm (ASA) is a congenital heart defect in which the wall between the two upper chambers of the heart (the atria) is abnormally thickened. This can cause blood to flow between the two chambers, leading to an increased risk of stroke and other complications. Treatment typically involves medications and/or surgery to repair the defect.  Read More

Atrial septal defect, coronary sinus type (ASD-CS) is a rare congenital heart defect in which the atrial septum, the wall between the two upper chambers of the heart, is not completely formed. Instead, there is an opening between the two chambers that allows oxygen-rich blood from the left atrium to mix with oxygen-poor blood from the right atrium. This can lead to an increased risk of stroke, heart failure, and other complications.  Read More

Atrial septal defect, ostium primum type is a congenital heart defect in which there is a hole in the wall (septum) between the two upper chambers (atria) of the heart. This type of defect is caused by a failure of the septum primum to form properly during fetal development. This results in an abnormal opening between the atria, allowing oxygen-rich blood to flow from the left atrium to the right atrium. This can lead to an increased workload  Read More

Atrial septal defect, ostium secundum type is a congenital heart defect in which there is a hole in the wall (septum) between the two upper chambers (atria) of the heart. This type of atrial septal defect is the most common type, accounting for about 70% of all atrial septal defects. It is usually caused by a failure of the septum to close completely during fetal development.  Read More

Atrial septal defect, sinus venosus type is a type of congenital heart defect in which there is an abnormal opening between the upper chambers of the heart (the atria). This type of defect is usually located in the upper part of the atrial septum, near the junction of the superior vena cava and the right atrium. This type of defect is usually associated with other cardiac defects, such as a patent foramen ovale or an atrioventricular septal de  Read More

Atrial septal defect-atrioventricular conduction defects syndrome (ASD-AVCD) is a rare genetic disorder characterized by a combination of two heart defects: an atrial septal defect (ASD) and an atrioventricular conduction defect (AVCD). An ASD is a hole in the wall between the two upper chambers of the heart (the atria), while an AVCD is a problem with the electrical signals that control the heart's rhythm. People with ASD-AVCD may experience  Read More

Atrial septal defects (ASD) are a type of congenital heart defect in which there is a hole in the wall (septum) between the two upper chambers (atria) of the heart. This hole allows oxygen-rich blood from the left atrium to flow into the right atrium, instead of flowing to the rest of the body. This can cause an abnormal increase in blood flow to the lungs, leading to symptoms such as shortness of breath, fatigue, and rapid breathing. In some  Read More

Atrial standstill is a rare cardiac arrhythmia in which the atria of the heart stop beating. This condition can lead to a lack of blood flow to the rest of the body, resulting in dizziness, fainting, and even death. Treatment typically involves the use of medications or electrical stimulation to restore the heart's normal rhythm.  Read More

Atrichia with papular lesions (APL) is a rare genetic disorder characterized by the absence of scalp hair (atrichia) and the presence of small, raised bumps (papules) on the skin. It is caused by mutations in the FOXL2 gene. Symptoms may include thinning of the eyebrows and eyelashes, as well as the absence of body hair. Treatment is typically focused on managing the symptoms and may include topical medications, laser therapy, and hair transpl  Read More

Atrioventricular defect-blepharophimosis-radial and anal defect syndrome (AVBRAD) is a rare genetic disorder characterized by a combination of heart defects, blepharophimosis (a condition in which the eyelids are abnormally narrow), radial and anal defects, and other physical abnormalities. The heart defects associated with AVBRAD include atrioventricular septal defect (AVSD), ventricular septal defect (VSD), and patent ductus arteriosus (PDA)  Read More

Atrioventricular septal defect (AVSD) is a congenital heart defect in which there is an abnormal connection between the two upper chambers of the heart (the atria) and the two lower chambers of the heart (the ventricles). This defect can cause blood to flow between the two chambers, resulting in an abnormal heart rhythm and increased pressure in the lungs. Treatment for AVSD typically involves surgery to close the abnormal connection.  Read More

Atrophic lichen planus is a rare form of lichen planus, a chronic inflammatory skin condition. It is characterized by thin, atrophic (thinning) patches of skin that are usually lighter in color than the surrounding skin. The patches may be itchy or painful and may be accompanied by other symptoms such as blistering, scaling, and discoloration. Treatment typically involves topical corticosteroids or other medications to reduce inflammation and  Read More

Atrophoderma vermiculata is a rare skin condition characterized by small, pitted, and slightly raised patches on the skin. It is most commonly found on the face, neck, and upper chest, and is thought to be caused by a combination of genetic and environmental factors. The condition is not contagious and does not cause any physical discomfort. Treatment is usually not necessary, but some people may opt for laser treatments or topical creams to r  Read More

At this time, there is no cure for Attenuated Chediak-Higashi syndrome. However, there are medications that can help manage the symptoms. These include antibiotics to prevent infections, immunoglobulin replacement therapy to boost the immune system, and medications to reduce inflammation. Additionally, regular monitoring of the patient's condition is important to ensure that any complications are caught early and treated appropriately.  Read More

ATTRV122I amyloidosis is a rare, inherited form of amyloidosis caused by a mutation in the transthyretin (TTR) gene. It is characterized by the buildup of abnormal proteins in the body's organs and tissues, leading to organ damage and other serious health problems.  Read More

ATTRV30M amyloidosis is a rare, progressive, and fatal genetic disorder caused by a mutation in the transthyretin (TTR) gene. It is characterized by the buildup of abnormal proteins called amyloid in the body's organs and tissues, which can lead to organ failure. Symptoms of ATTRV30M amyloidosis include peripheral neuropathy, cardiomyopathy, autonomic neuropathy, and carpal tunnel syndrome. Treatment options include liver transplantation, medi  Read More

Atypical autism is a form of autism that is characterized by milder symptoms than those seen in other forms of autism. People with atypical autism may have difficulty with social interaction, communication, and repetitive behaviors, but these difficulties are usually less severe than those seen in other forms of autism. Atypical autism is also sometimes referred to as Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS).  Read More

Atypical chronic myeloid leukemia (aCML) is a rare form of chronic myeloid leukemia (CML) that is characterized by an abnormal number of white blood cells, an abnormal number of immature cells, and an abnormal number of blasts in the bone marrow. It is a slow-growing form of CML that is not responsive to the standard treatment for CML, which is the drug imatinib (Gleevec). Patients with aCML may require more aggressive treatment, such as chemo  Read More

Atypical coarctation of the aorta is a rare congenital heart defect in which the aorta is narrowed in an abnormal location. It is usually located in the descending aorta, just beyond the left subclavian artery. This condition can cause a decrease in blood flow to the lower body, leading to symptoms such as high blood pressure in the arms and legs, chest pain, and shortness of breath. Treatment typically involves surgery to repair the narrowing  Read More

Atypical dentin dysplasia due to SMOC2 deficiency is a rare genetic disorder that affects the development of teeth. It is caused by mutations in the SMOC2 gene, which is responsible for producing a protein that is essential for the formation of dentin, the hard tissue that makes up the majority of a tooth. People with this disorder have teeth that are abnormally shaped, discolored, and prone to decay. They may also experience pain and sensitiv  Read More

Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome is a rare genetic disorder that affects the body’s ability to regulate insulin levels. It is characterized by an abnormally high level of insulin in the blood, which can lead to a variety of symptoms, including low blood sugar, poor growth, and seizures. It is caused by mutations in the genes responsible for the production of insulin, and is usually diagnosed in infancy. Treatment t  Read More

Atypical Gaucher disease due to saposin C deficiency is a rare, inherited disorder caused by a mutation in the GBA gene. This mutation results in a deficiency of the enzyme saposin C, which is responsible for breaking down certain fats in the body. People with this disorder experience a wide range of symptoms, including an enlarged spleen and liver, bone abnormalities, and neurological problems. Treatment typically involves enzyme replacement  Read More

Atypical glycine encephalopathy is a rare genetic disorder that affects the brain. It is caused by a mutation in the GLDC gene, which is responsible for producing an enzyme called glycine decarboxylase. This enzyme is necessary for the metabolism of glycine, an amino acid found in proteins. Symptoms of atypical glycine encephalopathy can include intellectual disability, seizures, hypotonia, and movement disorders. Treatment typically involves  Read More

Atypical Hemolytic Uremic Syndrome (aHUS) is a rare, life-threatening disorder that affects the kidneys, blood, and other organs. It is caused by abnormal activity of the complement system, a part of the immune system. Symptoms of aHUS include anemia (low red blood cell count), thrombocytopenia (low platelet count), and kidney failure. Treatment typically involves the use of plasma exchange and/or medications to suppress the complement system.  Read More

Atypical hemolytic uremic syndrome with anti-factor H antibodies (aHUS-AFH) is a rare, life-threatening disorder caused by an abnormal immune response. It is characterized by the formation of antibodies against the protein factor H, which is involved in the regulation of the complement system. This leads to uncontrolled activation of the complement system, resulting in the destruction of red blood cells, platelets, and other cells in the body.  Read More

Atypical hypotonia-cystinuria syndrome is a rare genetic disorder characterized by hypotonia (low muscle tone), cystinuria (an inherited disorder of amino acid metabolism), and other symptoms. Symptoms may include delayed development, intellectual disability, seizures, and vision and hearing problems. Treatment is symptomatic and supportive.  Read More

Atypical juvenile parkinsonism is a rare neurological disorder that affects children and young adults. It is characterized by symptoms similar to those of Parkinson's disease, including tremors, slow movement, and difficulty with balance and coordination. However, unlike Parkinson's disease, atypical juvenile parkinsonism does not respond to medications used to treat Parkinson's. Treatment typically involves physical and occupational therapy,  Read More

Atypical lichen myxedematosus is a rare autoimmune disorder that affects the skin. It is characterized by the formation of thick, waxy patches on the skin, usually on the face, neck, and upper chest. These patches can be itchy and may cause pain or discomfort. Other symptoms may include fatigue, joint pain, and hair loss. Treatment typically involves the use of topical steroids and other medications to reduce inflammation and improve skin appe  Read More

Atypical Meigs syndrome is a rare condition characterized by the presence of a benign ovarian tumor (fibroma) and ascites (fluid accumulation in the abdomen). It is usually associated with pleural effusions (fluid accumulation in the chest cavity) and hydrothorax (fluid accumulation in the pleural cavity). It is named after the American gynecologist, Robert Meigs, who first described the condition in 1894.  Read More

Atypical Norrie disease due to Xp11.3 microdeletion is a rare genetic disorder caused by a deletion of a small piece of genetic material on the X chromosome. It is characterized by severe vision loss, intellectual disability, and hearing loss. It is caused by a mutation in the NDP gene, which is located on the X chromosome. The deletion of the genetic material on the X chromosome results in a lack of the NDP protein, which is essential for nor  Read More

Atypical pantothenate kinase-associated neurodegeneration (PKAN) is a rare, inherited neurological disorder caused by mutations in the PANK2 gene. It is characterized by progressive dystonia (involuntary muscle contractions) and other neurological symptoms, including difficulty walking, speaking, and swallowing. It is also associated with iron accumulation in the brain, which can lead to further neurological problems. Treatment is limited to s  Read More

Atypical papilloma of the choroid plexus is a rare, benign tumor that develops in the choroid plexus, a network of blood vessels and nerve fibers in the brain. It is usually found in the lateral ventricles, the two large cavities in the brain. Symptoms of atypical papilloma of the choroid plexus may include headaches, seizures, and changes in behavior. Treatment typically involves surgical removal of the tumor.  Read More

Atypical progressive supranuclear palsy (aPSP) is a rare neurological disorder that affects movement, balance, and other functions. It is a form of progressive supranuclear palsy (PSP), a group of disorders that cause problems with movement, balance, and other functions. aPSP is characterized by a combination of symptoms that are similar to those of PSP, but with some differences. Symptoms may include difficulty walking, changes in speech, dif  Read More

Atypical teratoid rhabdoid tumor (AT/RT) is a rare, aggressive type of cancer that usually affects children under the age of three. It is a tumor of the central nervous system, most commonly found in the brain and spinal cord. AT/RT is a fast-growing tumor that is difficult to treat and has a poor prognosis. Treatment typically includes surgery, radiation, and chemotherapy.  Read More

Atypical Timothy syndrome is a rare genetic disorder that affects the heart, nervous system, and other parts of the body. It is caused by a mutation in the CACNA1C gene, which is responsible for the production of a protein that helps regulate the flow of calcium in and out of cells. Symptoms of Atypical Timothy syndrome can include seizures, developmental delays, heart problems, and behavioral issues.  Read More

Atypical Werner syndrome is a rare genetic disorder that is characterized by premature aging. It is caused by a mutation in the WRN gene, which is responsible for producing a protein that helps maintain the stability of chromosomes. Symptoms of Atypical Werner syndrome include a decrease in height, graying and thinning of the hair, wrinkles, and a decrease in muscle mass. Other symptoms may include osteoporosis, cataracts, diabetes, and an inc  Read More

Audiogenic seizures are seizures that are triggered by sound. They are most commonly seen in certain breeds of dogs, such as Beagles, Dachshunds, and Cocker Spaniels. Symptoms of audiogenic seizures can include trembling, salivation, and loss of consciousness. Treatment typically involves medications to control the seizures and environmental modifications to reduce the sound triggers.  Read More

Auditory neuropathy-optic atrophy syndrome (ANOS) is a rare genetic disorder that affects the auditory and visual systems. It is characterized by hearing loss, optic atrophy (degeneration of the optic nerve), and other neurological symptoms. The hearing loss is usually sensorineural, meaning it is caused by damage to the inner ear or the auditory nerve. The optic atrophy is caused by damage to the optic nerve, which carries visual information  Read More

Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome is a rare genetic disorder characterized by malformations of the ears, cleft lip and/or cleft palate, and ocular abnormalities. It is caused by a mutation in the GATA3 gene. Symptoms may include hearing loss, facial deformities, and vision problems. Treatment typically involves surgery to correct the facial deformities and hearing aids to improve heari  Read More

Auriculocondylar syndrome (ACS) is a rare genetic disorder characterized by malformations of the ears, jaw, and other facial features. It is caused by a mutation in the EFTUD2 gene. Symptoms may include small ears, a small lower jaw, a cleft palate, and hearing loss. Other features may include a small chin, a wide mouth, and a flat nose. Treatment is based on the individual's symptoms and may include surgery, hearing aids, and speech therapy.  Read More

Auriculoosteodysplasia is a rare genetic disorder characterized by malformations of the ears, bones, and teeth. It is caused by a mutation in the GJA1 gene, which is responsible for the production of connexin 43, a protein that helps cells communicate with each other. Symptoms of Auriculoosteodysplasia include hearing loss, facial deformities, and skeletal abnormalities. Treatment typically involves surgery to correct the deformities and heari  Read More

Autism spectrum disorder due to AUTS2 deficiency is a rare genetic disorder caused by a mutation in the AUTS2 gene. This mutation results in a deficiency of the AUTS2 protein, which is involved in the development of the brain and nervous system. Symptoms of this disorder include intellectual disability, language delays, social deficits, and repetitive behaviors. There is currently no cure for this disorder, but early intervention and therapies  Read More

Autism spectrum disorder-epilepsy-arthrogryposis syndrome (ASD-EP-AR) is a rare genetic disorder characterized by the presence of autism spectrum disorder (ASD), epilepsy, and arthrogryposis (joint contractures). It is caused by a mutation in the gene that encodes the protein filamin A (FLNA). Symptoms of ASD-EP-AR include intellectual disability, developmental delays, seizures, and joint contractures. Treatment typically involves a combinatio  Read More

Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (BCKDK) is a rare genetic disorder that affects the brain and nervous system. It is caused by a mutation in the BCKDK gene, which is responsible for producing an enzyme that helps break down certain amino acids. People with this disorder often experience seizures, developmental delays, and autism spectrum disorder (ASD) symptoms. Treatment typically involve  Read More

Autism-facial port-wine stain syndrome is a rare genetic disorder characterized by autism spectrum disorder, facial port-wine stains, and other physical and neurological abnormalities. It is caused by a mutation in the PIK3CA gene, which is responsible for the production of a protein involved in cell growth and development. Symptoms of this disorder can include intellectual disability, seizures, and developmental delays.  Read More

1. Age: Autoimmune encephalitis is most common in children and young adults, but can occur at any age. 2. Gender: Women are more likely to develop autoimmune encephalitis than men. 3. Genetic predisposition: Certain genetic mutations may increase the risk of developing autoimmune encephalitis. 4. Viral infections: Certain viral infections, such as herpes simplex virus, may increase the risk of developing  Read More

Autoerythrocyte sensitization syndrome (AESS) is a rare condition in which a person's body develops an immune response to their own red blood cells. This can lead to anemia, fatigue, and other symptoms. AESS is thought to be caused by an autoimmune reaction, in which the body mistakenly attacks its own red blood cells. Treatment typically involves immunosuppressive medications to reduce the body's immune response.  Read More

Autoimmune blistering diseases are a group of rare skin disorders in which the body’s immune system mistakenly attacks healthy tissue. These diseases cause blisters to form on the skin and mucous membranes. Common autoimmune blistering diseases include pemphigus, pemphigoid, dermatitis herpetiformis, and epidermolysis bullosa acquisita. Treatment for autoimmune blistering diseases typically involves medications to suppress the immune system  Read More

Autoimmune encephalopathy with parasomnia and obstructive sleep apnea (AEPOSA) is a rare neurological disorder characterized by an autoimmune response to the brain that causes abnormal sleep patterns, including parasomnias (abnormal behaviors during sleep) and obstructive sleep apnea (OSA). Symptoms of AEPOSA can include confusion, memory loss, difficulty concentrating, and changes in behavior. Treatment typically involves medications to reduc  Read More

Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (AEE-SCID) is a rare, inherited disorder that affects the immune system. People with AEE-SCID have a weakened immune system, which makes them more susceptible to infections. They also have an increased risk of developing autoimmune disorders, such as type 1 diabetes, thyroid disease, and celiac disease. AEE-SCID is caused by mutations in the AIRE gene, whic  Read More

Autoimmune hemolytic anemia, warm type is a type of autoimmune disorder in which the body's immune system mistakenly attacks and destroys its own red blood cells. This type of anemia is caused by the production of antibodies that attach to the red blood cells and cause them to be destroyed by the body's own immune system. Symptoms of this condition include fatigue, shortness of breath, pale skin, and jaundice. Treatment typically involves medi  Read More

Autoimmune hepatitis is a chronic, progressive liver disease caused by an abnormal immune response. It occurs when the body's immune system mistakenly attacks healthy liver cells, leading to inflammation and damage to the liver. Symptoms of autoimmune hepatitis can include fatigue, abdominal pain, jaundice, and dark urine. Treatment typically involves medications to suppress the immune system and reduce inflammation.  Read More

Autoimmune hepatitis type 1 is a chronic liver disease caused by the body's immune system attacking the liver. It is characterized by inflammation of the liver, which can lead to scarring and cirrhosis. Symptoms may include fatigue, abdominal pain, jaundice, and dark urine. Treatment typically involves medications to suppress the immune system and reduce inflammation.  Read More

Autoimmune hepatitis type 2 is a rare form of autoimmune hepatitis, a chronic liver disease caused by the body's immune system attacking the liver. It is characterized by inflammation of the liver, which can lead to scarring and cirrhosis. Symptoms of autoimmune hepatitis type 2 include fatigue, abdominal pain, jaundice, and dark urine. Treatment typically involves medications to suppress the immune system and reduce inflammation.  Read More

Autoimmune hypoparathyroidism is a rare autoimmune disorder in which the body's immune system mistakenly attacks and destroys the parathyroid glands, which are responsible for producing the hormone parathyroid hormone (PTH). This hormone helps regulate calcium and phosphorus levels in the body. Without enough PTH, calcium levels in the blood can become too low, leading to symptoms such as muscle cramps, tingling in the hands and feet, and fati  Read More

Autoimmune interstitial lung disease-arthritis syndrome (AILD-A) is a rare autoimmune disorder characterized by the presence of both interstitial lung disease (ILD) and arthritis. It is a form of systemic autoimmune disease, meaning that it affects multiple organs and systems in the body. Symptoms of AILD-A include shortness of breath, chest pain, fatigue, joint pain, and fever. Treatment typically involves a combination of medications, lifest  Read More

Autoimmune limbic encephalitis is a rare neurological disorder caused by an autoimmune reaction in which the body's immune system mistakenly attacks healthy cells in the brain. Symptoms of autoimmune limbic encephalitis can include seizures, confusion, memory loss, personality changes, and difficulty speaking. Treatment typically involves a combination of medications, immunotherapy, and supportive care.  Read More

Autoimmune lymphoproliferative syndrome (ALPS) is a rare inherited disorder of the immune system. It is characterized by an overproduction of white blood cells, which can lead to enlarged lymph nodes, spleen, and liver. ALPS can also cause autoimmune disorders, such as rheumatoid arthritis, lupus, and type 1 diabetes. Treatment typically involves medications to suppress the immune system and reduce inflammation.  Read More

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency (ALPS-CTLA4) is a rare, inherited disorder that affects the immune system. It is caused by a mutation in the CTLA4 gene, which is responsible for producing a protein called cytotoxic T-lymphocyte antigen-4 (CTLA-4). This protein helps regulate the activity of the immune system, and when it is not functioning properly, the body's immune system can become overactive and attack  Read More

Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder that affects the immune system. It is characterized by an overactive immune system, which leads to an increased production of white blood cells (lymphocytes) and an increased risk of recurrent viral infections. People with ALPS may also experience other symptoms such as enlarged lymph nodes, anemia, and skin rashes. Treatment typically inv  Read More

Autoimmune pancreatitis type 1 (AIP1) is a rare form of chronic pancreatitis caused by an autoimmune reaction. It is characterized by inflammation of the pancreas, which can lead to abdominal pain, weight loss, and jaundice. AIP1 is often associated with other autoimmune diseases, such as Sjogren's syndrome, inflammatory bowel disease, and primary sclerosing cholangitis. Treatment typically involves corticosteroids and other immunosuppressive  Read More

Autoimmune pancreatitis type 2 (AIP2) is a rare form of chronic pancreatitis caused by an autoimmune reaction. It is characterized by inflammation of the pancreas, which can lead to abdominal pain, weight loss, and jaundice. AIP2 is often associated with other autoimmune diseases, such as Sjogren's syndrome, inflammatory bowel disease, and primary sclerosing cholangitis. Treatment typically involves immunosuppressive medications and/or steroid  Read More

Autoimmune Polyendocrine Syndrome Type II (APS-II) is a rare, inherited disorder that affects the endocrine system. It is characterized by the presence of two or more autoimmune diseases, such as Addison's disease, hypoparathyroidism, and/or type 1 diabetes. People with APS-II may also have other autoimmune diseases, such as vitiligo, alopecia, and pernicious anemia. Symptoms of APS-II can vary, but may include fatigue, weight loss, muscle wea  Read More

Autoimmune polyendocrinopathy type 2 (APECED) is a rare, inherited autoimmune disorder that affects multiple endocrine glands. It is characterized by the presence of autoantibodies against the body's own tissues, leading to the destruction of the endocrine glands and the production of hormones. Symptoms of APECED can include hypoparathyroidism, adrenal insufficiency, and hypogonadism. Other symptoms may include chronic mucocutaneous candidiasi  Read More

Autoimmune polyendocrinopathy type 3 (APECED) is a rare, inherited autoimmune disorder that affects multiple endocrine glands. It is characterized by the presence of autoantibodies against the body's own tissues, leading to the destruction of the endocrine glands and the production of hormones. Symptoms of APECED can include hypoparathyroidism, adrenal insufficiency, and hypogonadism. Other symptoms may include chronic mucocutaneous candidiasi  Read More

Autoimmune polyendocrinopathy type 4 (APECED) is a rare, inherited autoimmune disorder that affects multiple endocrine glands. It is characterized by the presence of autoantibodies against the body's own tissues, leading to the destruction of the endocrine glands and the production of hormones. Symptoms of APECED can include hypoparathyroidism, adrenal insufficiency, and hypogonadism. Other symptoms may include chronic mucocutaneous candidiasi  Read More

Autoimmune Polyglandular Syndrome Type 1 (APS-1) is a rare, inherited disorder that affects the immune system. It is characterized by the presence of two or more autoimmune diseases, such as Addison's disease, hypoparathyroidism, and type 1 diabetes. People with APS-1 may also have other autoimmune diseases, such as vitiligo, alopecia, and pernicious anemia. APS-1 is caused by a mutation in the AIRE gene, which is responsible for regulating th  Read More

Autoimmune pulmonary alveolar proteinosis (aPAP) is a rare lung disorder in which the body produces too much of a protein called surfactant. This protein builds up in the lungs, leading to difficulty breathing, coughing, and other respiratory symptoms. It is caused by an autoimmune reaction, in which the body's immune system mistakenly attacks healthy cells in the lungs. Treatment typically involves a combination of medications, oxygen therapy  Read More

Autoinflammation with Infantile Enterocolitis (AIE) is a rare, inherited disorder that affects the digestive system. It is characterized by recurrent episodes of inflammation in the small intestine and colon, which can cause abdominal pain, vomiting, diarrhea, and poor growth. AIE is caused by mutations in genes that are involved in the regulation of the immune system. Treatment typically involves medications to reduce inflammation and improve  Read More

Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation is a rare, inherited disorder characterized by recurrent episodes of inflammation, low levels of antibodies, and an overactive immune system. It is caused by mutations in the PLCG2 gene, which is responsible for producing an enzyme that helps regulate the immune system. Symptoms of this disorder can include recurrent fever, skin rashes, joint pain, and abdominal pain. T  Read More

Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis (APA) is a rare genetic disorder characterized by recurrent episodes of fever, inflammation, and infection caused by an overactive immune system. It is caused by mutations in the gene encoding the protein amylopectin, which is involved in the regulation of inflammation. Symptoms of APA include recurrent episodes of fever, rash, joint pain, abdominal pain, and fatig  Read More

Autosomal dominant adult-onset proximal spinal muscular atrophy (AD-SMA) is a rare genetic disorder that affects the muscles of the arms and legs. It is caused by a mutation in the SMN1 gene, which is responsible for producing a protein called survival motor neuron (SMN). This protein is essential for the proper functioning of the motor neurons in the spinal cord. People with AD-SMA experience progressive muscle weakness and wasting, which can  Read More

Autosomal dominant Alport syndrome is a genetic disorder that affects the kidneys and hearing. It is caused by a mutation in the COL4A5 gene, which is responsible for producing type IV collagen, a protein that helps form the basement membrane of the kidneys and inner ear. Symptoms of the disorder include progressive hearing loss, proteinuria (excess protein in the urine), and kidney failure.  Read More

Autosomal dominant aplasia and myelodysplasia is a rare genetic disorder that affects the production of blood cells. It is caused by a mutation in a gene that is responsible for the production of red blood cells, white blood cells, and platelets. People with this disorder have a reduced number of these cells, which can lead to anemia, infections, and other health problems. Treatment typically involves blood transfusions and medications to help  Read More

Autosomal dominant brachyolmia is a rare genetic disorder that affects the bones and muscles. It is caused by a mutation in the gene that codes for the protein collagen type II. Symptoms of this disorder include short stature, scoliosis, joint stiffness, and muscle weakness. It is inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is needed for a person to be affected by the disorder.  Read More

Autosomal dominant centronuclear myopathy (ADCNM) is a rare inherited neuromuscular disorder characterized by muscle weakness and wasting (atrophy) that usually begins in early childhood. It is caused by mutations in the DNM2 gene, which is responsible for the production of a protein called dynamin 2. This protein is important for the normal functioning of muscle cells. Symptoms of ADCNM include muscle weakness, muscle wasting, and difficulty  Read More

Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome (ADCA-DN) is a rare genetic disorder characterized by progressive cerebellar ataxia (incoordination of movement), hearing loss, and narcolepsy (excessive daytime sleepiness). It is caused by a mutation in the POU3F2 gene, which is located on chromosome 6. Symptoms usually begin in childhood or adolescence and can range from mild to severe. Treatment is supportive and may include  Read More

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation is a rare inherited neurological disorder caused by a mutation in the DGAT2 gene. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as sensory loss in the feet and hands. Other symptoms may include foot deformities, such as hammertoes, and difficulty walking. There is currently no cure for this disorder, but physical the  Read More

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare inherited neurological disorder caused by a mutation in the KIF5A gene. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as sensory loss in the feet and hands. Other symptoms may include foot deformities, such as hammertoes and high arches, and difficulty walking.  Read More

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation is a rare inherited neurological disorder caused by a mutation in the TFG gene. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as sensory loss in the feet and hands. Symptoms usually begin in childhood or adolescence and worsen over time. Treatment is supportive and may include physical therapy, orthopedic devices, and  Read More

Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons (CMT2G) is a rare inherited neurological disorder characterized by progressive muscle weakness and wasting (atrophy) of the lower legs, feet, and hands. It is caused by mutations in the GARS gene, which is responsible for producing the protein glycyl-tRNA synthetase. People with CMT2G have abnormally large axons, which are the long, thin fibers that carry electrical signals  Read More

Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as sensory loss in the feet and hands. CMT2A1 is caused by mutations in the gene encoding the protein mitofusin 2 (MFN2).  Read More

Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as sensory loss in the feet and hands. CMT2A2 is caused by mutations in the SH3TC2 gene, which is responsible for producing a protein that helps maintain the structure and function of peripheral nerves.  Read More

Autosomal dominant Charcot-Marie-Tooth disease type 2B (AD-CMT2B) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as sensory loss in the feet and hands. AD-CMT2B is caused by mutations in the SH3TC2 gene, which is responsible for producing a protein that helps maintain the structure and function of peripheral nerves.  Read More

Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as sensory loss in the feet and hands. CMT2C is caused by mutations in the SH3TC2 gene, which is responsible for producing a protein that helps maintain the structure and function of peripheral nerves.  Read More

Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as sensory loss in the feet and hands. CMT2D is caused by mutations in the GARS gene, which is responsible for producing the protein glycine-tRNA synthetase. Symptoms usually begin in childhood or adolescenc  Read More

Autosomal dominant Charcot-Marie-Tooth disease type 2DD (CMT2DD) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as sensory loss in the feet and hands. CMT2DD is caused by mutations in the GARS gene, which is responsible for producing the protein glycine-tRNA synthetase. Symptoms typically begin in childhood or adole  Read More

Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as sensory loss in the feet and hands. CMT2E is caused by mutations in the GARS gene, which is responsible for producing the protein glycine-tRNA synthetase. This protein is essential for the proper function  Read More

Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as sensory loss in the feet and hands. CMT2F is caused by mutations in the GARS gene, which is responsible for producing the protein glycine-tRNA synthetase. This protein is essential for the proper function  Read More

Autosomal dominant Charcot-Marie-Tooth disease type 2G (CMT2G) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as sensory loss in the feet and hands. CMT2G is caused by mutations in the GARS gene, which is responsible for producing the glycine-rich protein. Symptoms usually begin in childhood or adolescence and can r  Read More

Autosomal dominant Charcot-Marie-Tooth disease type 2I (AD-CMT2I) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as sensory loss in the feet and hands. It is caused by mutations in the GARS gene, which is responsible for producing the protein glycine-tRNA synthetase. Symptoms usually begin in childhood or adolescenc  Read More

Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by slowly progressive muscle weakness and wasting (atrophy) of the lower legs, feet, and hands, as well as sensory loss in the feet and hands. CMT2J is caused by mutations in the GARS gene, which is responsible for producing the protein glycine-tRNA synthetase.  Read More

Autosomal dominant Charcot-Marie-Tooth disease type 2K (CMT2K) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting, sensory loss, and foot deformities. CMT2K is caused by mutations in the GARS gene, which is responsible for producing the protein glycine-tRNA synthetase. Symptoms usually begin in childhood or adolescence and can range from mild to severe.  Read More

Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting in the lower legs, feet, and hands, as well as sensory loss in the feet and hands. CMT2L is caused by mutations in the GARS gene, which is responsible for producing the protein glycine-tRNA synthetase.  Read More

Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a rare inherited neurological disorder that affects the peripheral nerves. It is caused by mutations in the SH3TC2 gene, which is responsible for the production of a protein that helps maintain the structure and function of the peripheral nerves. Symptoms of CMT2M include muscle weakness and wasting, foot deformities, and sensory loss.  Read More

Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as sensory loss in the feet and hands. CMT2N is caused by mutations in the SH3TC2 gene, which is responsible for producing a protein that helps maintain the structure and function of peripheral nerves.  Read More

Autosomal dominant Charcot-Marie-Tooth disease type 2O (CMT2O) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as sensory loss in the feet and hands. CMT2O is caused by mutations in the GARS gene, which is responsible for producing the protein glycine-tRNA synthetase. Symptoms typically begin in childhood or adolesce  Read More

Autosomal dominant Charcot-Marie-Tooth disease type 2Q (CMT2Q) is a rare inherited neurological disorder that affects the peripheral nerves. It is caused by mutations in the GARS gene, which is responsible for the production of the protein glycine-tRNA synthetase. Symptoms of CMT2Q include muscle weakness and wasting, foot deformities, and sensory loss in the feet and legs.  Read More

Autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as sensory loss in the feet and hands. CMT2U is caused by mutations in the GARS gene, which is responsible for producing the protein glycine-tRNA synthetase. Symptoms typically begin in childhood or adolesce  Read More

Autosomal dominant Charcot-Marie-Tooth disease type 2V (CMT2V) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as sensory loss in the feet and hands. CMT2V is caused by mutations in the SH3TC2 gene, which is responsible for producing a protein that helps maintain the structure of the peripheral nerves.  Read More

Autosomal dominant Charcot-Marie-Tooth disease type 2W (CMT2W) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as sensory loss in the feet and hands. CMT2W is caused by mutations in the GJB1 gene, which is responsible for producing a protein called connexin 32. This protein helps to form gap junctions between cells,  Read More

Autosomal dominant Charcot-Marie-Tooth disease type 2Y (CMT2Y) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by slowly progressive muscle weakness and wasting in the lower legs, feet, and hands, as well as sensory loss in the feet and hands. CMT2Y is caused by mutations in the GARS gene, which is responsible for producing the protein glycine-tRNA synthetase.  Read More

Autosomal dominant Charcot-Marie-Tooth disease type 2Z (CMT2Z) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as sensory loss in the feet and hands. CMT2Z is caused by mutations in the GARS gene, which is responsible for producing the protein glycine-tRNA synthetase. This protein is essential for the proper function  Read More

Autosomal dominant coarctation of aorta is a genetic disorder that affects the aorta, the main artery that carries blood from the heart to the rest of the body. It is caused by a narrowing of the aorta, which can lead to high blood pressure, heart failure, and other complications. It is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the disorder.  Read More

Autosomal dominant congenital benign spinal muscular atrophy (ADCBSMA) is a rare genetic disorder that affects the muscles of the spine and lower body. It is caused by a mutation in the SMN1 gene, which is responsible for producing a protein that is essential for the development and maintenance of motor neurons. Symptoms of ADCBSMA include muscle weakness, muscle wasting, and difficulty walking. There is currently no cure for this disorder, bu  Read More

Autosomal dominant cutis laxa is a rare genetic disorder that affects the skin. It is characterized by loose, wrinkled skin that is prone to sagging and stretching. It is caused by mutations in the elastin gene, which is responsible for producing the protein elastin, which helps give skin its elasticity. Symptoms can vary from mild to severe and may include loose skin, wrinkles, sagging skin, joint laxity, and hernias.  Read More

Autosomal dominant deafness-onychodystrophy syndrome (ADOD) is a rare genetic disorder characterized by hearing loss, nail abnormalities, and skin changes. It is caused by mutations in the GJB2 gene, which is responsible for the production of a protein called connexin 26. This protein is important for the normal functioning of the inner ear and for the development of healthy nails. People with ADOD typically experience hearing loss in both ear  Read More

Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome (AD-MNM) is a rare genetic disorder characterized by progressive muscle weakness and wasting (atrophy) of the lower limbs, as well as sensory disturbances in the feet and hands. It is caused by mutations in the DNM2 gene, which is responsible for the production of a protein involved in the maintenance of the structure and function of nerve cells. Symptoms typicall  Read More

Autosomal dominant distal renal tubular acidosis (dRTA) is a rare inherited disorder that affects the kidneys' ability to regulate acid-base balance in the body. It is caused by a mutation in the SLC4A1 gene, which is responsible for the production of a protein called AE1. This protein is essential for the proper functioning of the kidney's distal tubules, which are responsible for regulating acid-base balance. People with dRTA have an impaire  Read More

Autosomal dominant dopa-responsive dystonia (DRD) is a rare inherited neurological disorder that is characterized by dystonia, a movement disorder that causes involuntary muscle contractions and abnormal postures. It is caused by a mutation in the GCH1 gene, which is responsible for producing the enzyme GTP cyclohydrolase 1. Symptoms of DRD usually begin in childhood and can include difficulty walking, tremors, and muscle spasms. Treatment typ  Read More

Autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetic disorder that affects the muscles and connective tissues. It is caused by a mutation in the gene that codes for the protein emerin, which is found in the inner membrane of muscle cells. Symptoms of EDMD include muscle weakness, joint contractures, and cardiac abnormalities. The severity of the disorder can vary from person to person, and there is no cure. Treatment f  Read More

Autosomal dominant epidermolytic ichthyosis (ADEI) is a rare genetic skin disorder that is characterized by thick, scaly skin. It is caused by a mutation in the keratin gene, which is responsible for the production of proteins that make up the skin's outer layer. Symptoms of ADEI include dry, scaly skin, redness, itching, and blistering. In severe cases, the skin can become thick and leathery. Treatment for ADEI includes topical medications, m  Read More

Autosomal dominant epilepsy with auditory features (ADEA) is a rare genetic disorder characterized by recurrent seizures that are triggered by auditory stimuli. It is caused by a mutation in the GRIN2A gene, which is responsible for the production of a protein involved in the regulation of neurotransmitter release. Symptoms of ADEA include seizures that are triggered by sounds such as music, voices, or other noises, as well as cognitive and be  Read More

Autosomal dominant focal dystonia, DYT25 type is a rare genetic disorder that affects the muscles of the face, neck, and head. It is caused by a mutation in the DYT25 gene, which is located on chromosome 19. Symptoms of this disorder include involuntary muscle contractions, spasms, and abnormal postures of the head, neck, and face. These symptoms can be mild or severe and can affect one or both sides of the body. Treatment typically involves m  Read More

Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering is a rare genetic disorder characterized by thickening of the skin on the palms and soles of the feet, as well as the formation of blisters on the soles. It is caused by a mutation in the GJB2 gene, which is responsible for the production of a protein called connexin 26. This protein helps to form gap junctions between cells, which are important for the  Read More

Autosomal dominant generalized dystrophic epidermolysis bullosa (AD-GDEB) is a rare genetic disorder that causes the skin to become fragile and blister easily. It is caused by mutations in the genes that produce proteins that help to form the skin's outer layer. Symptoms of AD-GDEB include blistering of the skin, scarring, and thickening of the skin. In severe cases, the blisters can lead to infection and scarring of the internal organs. There  Read More

Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form is a rare genetic disorder that affects the skin. It is caused by a mutation in the KRT5 gene, which is responsible for producing a protein called keratin 5. This protein helps to form the structure of the skin. People with this disorder have fragile skin that is easily damaged, leading to blisters and sores. The blisters and sores can occur anywhere on the body, b  Read More

Autosomal dominant generalized epidermolysis bullosa simplex, severe form is a rare genetic disorder that causes the skin to be fragile and easily damaged. It is caused by a mutation in the KRT5 gene, which is responsible for producing a protein that helps form the skin's outer layer. Symptoms of this disorder include blistering of the skin, especially on the hands and feet, and scarring of the skin. In severe cases, the skin may become thicke  Read More

Autosomal Dominant Hereditary Ataxia (ADHA) is a type of inherited neurological disorder that affects the coordination and balance of the body. It is caused by a mutation in a gene on one of the autosomes, which are the non-sex chromosomes. Symptoms of ADHA can include difficulty walking, clumsiness, poor coordination, and slurred speech. In some cases, the disorder can also cause vision and hearing problems.  Read More

Autosomal Dominant Hyper IgE Syndrome (AD-HIES) is a rare, inherited immune disorder characterized by recurrent skin and lung infections, elevated levels of immunoglobulin E (IgE), and an increased risk of developing certain types of cancer. It is caused by mutations in the STAT3 gene, which is responsible for regulating the body's immune response. Symptoms of AD-HIES can include recurrent skin infections, recurrent lung infections, eczema, re  Read More

Autosomal dominant hyper-IgE syndrome (AD-HIES) is a rare, inherited immune disorder characterized by recurrent skin infections, elevated levels of immunoglobulin E (IgE), and other immune system abnormalities. It is caused by mutations in the STAT3 gene. Symptoms may include recurrent skin infections, eczema, recurrent pneumonia, and skeletal abnormalities. Treatment typically involves antibiotics, antifungal medications, and immunosuppressiv  Read More

Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a rare genetic disorder that affects the way the body produces and uses insulin. It is caused by a mutation in the gene that codes for the protein Kir6.2, which is a component of the ATP-sensitive potassium channel in the beta cells of the pancreas. This mutation causes the channel to be less sensitive to ATP, resulting in an overproduction of insulin. Symptoms of this disorder inc  Read More

Autosomal dominant hyperinsulinism due to SUR1 deficiency is a rare genetic disorder caused by a mutation in the ABCC8 gene, which encodes the SUR1 protein. This mutation results in a decrease in the activity of the SUR1 protein, which is responsible for regulating the release of insulin from the pancreas. As a result, individuals with this disorder experience excessive production of insulin, leading to hypoglycemia (low blood sugar). Treatmen  Read More

Autosomal dominant hypocalcemia is a rare inherited disorder characterized by low levels of calcium in the blood. It is caused by mutations in the calcium-sensing receptor gene, which is responsible for regulating calcium levels in the body. Symptoms of this disorder can include muscle cramps, seizures, and tetany (involuntary muscle spasms). Treatment typically involves calcium and vitamin D supplementation, as well as medications to control  Read More

Autosomal dominant hypohidrotic ectodermal dysplasia (ADHED) is a rare genetic disorder that affects the development of the skin, hair, teeth, and sweat glands. People with ADHED have fewer sweat glands than normal, which can lead to overheating and dehydration. They may also have sparse or absent hair, dry skin, and abnormal teeth. ADHED is caused by a mutation in the EDA gene and is inherited in an autosomal dominant pattern.  Read More

Autosomal dominant hypophosphatemic rickets is a rare genetic disorder that affects the body's ability to absorb and use phosphorus. It is caused by mutations in the PHEX gene, which is responsible for regulating the amount of phosphate in the body. Symptoms of this disorder include bone deformities, short stature, and muscle weakness. Treatment typically involves taking phosphate supplements and vitamin D to help the body absorb and use phosp  Read More

Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome (ADID-CFCD) is a rare genetic disorder characterized by intellectual disability, craniofacial anomalies, and cardiac defects. It is caused by a mutation in the gene encoding the transcription factor FOXG1. Symptoms of this disorder can include developmental delay, intellectual disability, seizures, facial dysmorphism, and congenital heart defects. Treatm  Read More

Autosomal dominant intermediate Charcot-Marie-Tooth disease type A (AD-CMT A) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by slowly progressive muscle weakness and wasting (atrophy) of the lower legs, feet, and hands. Other symptoms may include foot deformities, such as high arches, hammertoes, and a tendency to walk on the toes; sensory loss in the feet and hands; and a decrease in reflexe  Read More

Autosomal dominant intermediate Charcot-Marie-Tooth disease type B (AD-CMTB) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by slowly progressive muscle weakness and wasting in the lower legs, feet, and hands, as well as sensory loss in the feet and hands. AD-CMTB is caused by mutations in the GDAP1 gene, which is responsible for producing a protein that helps maintain the structure and functi  Read More

Autosomal dominant intermediate Charcot-Marie-Tooth disease type C (AD-CMT C) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by slowly progressive muscle weakness and wasting, especially in the lower legs, and sensory loss in the feet and hands. It is caused by mutations in the GDAP1 gene. Symptoms usually begin in childhood or adolescence and can range from mild to severe. Treatment is suppor  Read More

Autosomal dominant intermediate Charcot-Marie-Tooth disease type D (AD-CMTD) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by slowly progressive muscle weakness and wasting (atrophy) of the lower legs, feet, and hands, as well as sensory loss in the feet and hands. AD-CMTD is caused by mutations in the GARS gene, which is responsible for producing the protein glycine-tRNA synthetase.  Read More

Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (AD-CMT type E) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by slowly progressive muscle weakness and wasting (atrophy) of the lower legs, feet, and hands, as well as sensory loss in the feet and hands. It is caused by mutations in the GARS gene, which is responsible for producing the protein glycine-tRNA synthetase.  Read More

Autosomal dominant intermediate Charcot-Marie-Tooth disease type F (AD-CMT F) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by slowly progressive muscle weakness and wasting (atrophy) of the lower legs, feet, and hands, as well as sensory loss in the feet and hands. Other symptoms may include foot deformities, such as high arches, hammertoes, and claw toes. AD-CMT F is caused by mutations in  Read More

Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as sensory loss and neuropathic pain. It is caused by mutations in the gene encoding the myelin protein PMP22. Symptoms usually begin in childhood or adolescence and worsen over time. Trea  Read More

Autosomal dominant Kenny-Caffey syndrome is a rare genetic disorder characterized by short stature, delayed bone development, and abnormally small bones in the hands and feet. It is caused by a mutation in the TBCE gene, which is responsible for the production of a protein involved in bone development. Symptoms of the disorder can vary from person to person, but may include short stature, delayed bone development, abnormally small bones in the  Read More

Autosomal dominant keratitis is a rare genetic disorder that affects the cornea of the eye. It is caused by a mutation in the gene that codes for the protein keratin, which is responsible for the structure and strength of the cornea. Symptoms of this disorder include blurred vision, sensitivity to light, and eye pain. Treatment typically involves the use of topical medications and/or surgery.  Read More

Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a rare, inherited form of muscular dystrophy that affects the muscles of the arms and legs. It is caused by a mutation in the gene encoding the protein calpain-3. Symptoms of LGMD1A usually begin in childhood or adolescence and include muscle weakness and wasting, difficulty walking, and joint contractures. Over time, the condition can lead to respiratory and cardiac complic  Read More

Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a rare, inherited form of muscular dystrophy that affects the muscles of the arms and legs. It is caused by a mutation in the CAPN3 gene, which is responsible for producing the protein calpain-3. This protein is important for muscle function and maintenance. People with LGMD1H experience progressive muscle weakness and wasting, which can lead to difficulty walking, climbing  Read More

Autosomal dominant macrothrombocytopenia is a rare inherited disorder characterized by abnormally large platelets in the blood. It is caused by a mutation in the MYH9 gene, which is responsible for the production of a protein involved in the formation of platelets. Symptoms of this disorder include easy bruising, nosebleeds, and bleeding gums. Treatment typically involves medications to reduce the risk of bleeding.  Read More

Autosomal dominant mitochondrial myopathy with exercise intolerance is a rare genetic disorder that affects the muscles and causes them to become weak and easily fatigued. It is caused by a mutation in the mitochondrial DNA, which is passed down from parent to child in an autosomal dominant pattern. Symptoms typically include muscle weakness, exercise intolerance, and cramping. Other symptoms may include muscle pain, muscle wasting, and diffic  Read More

Autosomal dominant multiple pterygium syndrome (ADMPS) is a rare genetic disorder characterized by multiple pterygia (webbed skin folds) on the neck, arms, legs, and other parts of the body. It is caused by a mutation in the gene that codes for the protein laminin-alpha-2. Symptoms of ADMPS can include joint contractures, muscle weakness, and respiratory problems. Treatment typically involves physical therapy, occupational therapy, and surgery  Read More

Autosomal dominant myoglobinuria is a rare inherited disorder that affects the muscles. It is caused by a mutation in the myoglobin gene, which is responsible for producing the protein myoglobin. People with this disorder experience episodes of muscle pain, weakness, and dark urine due to the buildup of myoglobin in the muscles. The episodes can last for days or weeks and can be triggered by exercise or stress. There is no cure for this disord  Read More

Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome (ADMMSRD) is a rare genetic disorder characterized by myopia (nearsightedness), midfacial retrusion (underdevelopment of the midface), sensorineural hearing loss (hearing loss due to damage to the inner ear or auditory nerve), and rhizomelic dysplasia (abnormal shortening of the long bones of the arms and legs). This disorder is inherited in  Read More

Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is a rare genetic disorder that affects the eyes. It is characterized by inflammation of the retina and vitreous, as well as the formation of abnormal blood vessels in the eye. Symptoms of ADNIV include decreased vision, floaters, and flashes of light. Treatment typically involves laser therapy, intravitreal injections, and vitrectomy.  Read More

Autosomal dominant omodysplasia is a rare genetic disorder characterized by short stature, skeletal abnormalities, and facial dysmorphism. It is caused by a mutation in the gene encoding the protein omodysplasin, which is involved in the development of bones and cartilage. Symptoms of the disorder include short stature, short limbs, a short neck, a prominent forehead, a flattened nose, and a small jaw. Other features may include hearing loss,  Read More

Autosomal dominant optic atrophy and cataract is a rare genetic disorder that affects the eyes. It is caused by a mutation in the OPA1 gene, which is responsible for the production of a protein that helps maintain the structure of the mitochondria. People with this disorder typically experience vision loss due to optic nerve damage, as well as cataracts. Treatment is limited to managing the symptoms, and there is no cure.  Read More

Autosomal dominant optic atrophy and peripheral neuropathy (ADOPN) is a rare genetic disorder characterized by progressive vision loss due to optic nerve damage, as well as peripheral nerve damage that can cause numbness, tingling, and muscle weakness. It is caused by mutations in the OPA1 gene, which is responsible for producing a protein that helps maintain the structure and function of mitochondria. ADOPN is inherited in an autosomal domina  Read More

Autosomal dominant optic atrophy plus syndrome (ADOAP) is a rare genetic disorder characterized by progressive vision loss due to optic nerve damage, as well as other neurological and physical abnormalities. It is caused by mutations in the OPA1 gene, which is responsible for the production of a protein that helps maintain the structure and function of mitochondria. Symptoms of ADOAP can include vision loss, hearing loss, developmental delays,  Read More

Autosomal dominant optic atrophy, classic form (ADOA-CF) is a rare inherited disorder that affects the optic nerve, which carries visual information from the eye to the brain. It is characterized by progressive vision loss, usually beginning in childhood or adolescence. Symptoms may include decreased visual acuity, color vision deficits, and night blindness. In some cases, the disorder may also cause nystagmus (involuntary eye movements) and s  Read More

Autosomal dominant osteopetrosis type 1 (ADO1) is a rare genetic disorder that affects the bones. It is caused by a mutation in the TCIRG1 gene, which is responsible for the production of a protein that helps to regulate the activity of osteoclasts, the cells that break down bone. People with ADO1 have bones that are abnormally dense and thick, which can lead to a variety of complications, including fractures, bone deformities, and vision and  Read More

Autosomal dominant otospondylomegaepiphyseal dysplasia (AD-OSMED) is a rare genetic disorder that affects the development of bones and cartilage in the body. It is characterized by hearing loss, short stature, and skeletal abnormalities. The hearing loss is usually progressive and can lead to deafness. Other features of the disorder include a short neck, a small jaw, and a flattened face. The skeletal abnormalities can include a shortening of  Read More

Autosomal dominant palmoplantar keratoderma and congenital alopecia is a rare genetic disorder characterized by thickening of the skin on the palms and soles of the feet (palmoplantar keratoderma) and hair loss at birth (congenital alopecia). This disorder is caused by mutations in the GJB6 gene, which is responsible for the production of a protein called connexin 30. This protein is important for the normal development of the skin and hair fo  Read More

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a genetic disorder that causes cysts to form in the kidneys. These cysts can grow and eventually cause the kidneys to become enlarged and damaged. ADPKD can also cause cysts to form in other organs, such as the liver, pancreas, and heart. Symptoms of ADPKD can include high blood pressure, pain in the back or side, frequent urination, and blood in the urine. In some cases, ADPKD can lead t  Read More

Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (ADPKD1-TSC) is a rare genetic disorder that is caused by a mutation in the PKD1 gene. It is characterized by the growth of multiple cysts in the kidneys, as well as the development of non-cancerous tumors in other organs, such as the brain, heart, and lungs. People with this disorder may also experience seizures, developmental delays, and skin abnormalities. Treatment  Read More

Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic disorder characterized by webbing of the skin between the back of the knee and the ankle (popliteal pterygium), as well as other physical abnormalities. It is caused by a mutation in the TBX4 gene and is inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is necessary for a person to be affected by the disorder. Symptoms may includ  Read More

Autosomal Dominant Porencephaly Type I is a rare genetic disorder that affects the development of the brain. It is caused by a mutation in the COL4A1 gene, which is responsible for the production of a protein that helps form the walls of blood vessels in the brain. People with this disorder have a wide range of neurological symptoms, including seizures, intellectual disability, and movement disorders.  Read More

Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome is a rare genetic disorder characterized by the presence of extra fingers or toes (polydactyly) on the preaxial side of the hands and feet, as well as excessive hair growth on the upper back (hypertrichosis). It is caused by a mutation in the HOXD13 gene. Symptoms may also include short stature, joint contractures, and facial abnormalities. Treatment is typically focused  Read More

Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPH) is a rare inherited disorder characterized by low levels of magnesium in the blood (hypomagnesemia) and low levels of calcium in the urine (hypocalciuria). It is caused by mutations in the TRPM6 gene, which is responsible for the production of a protein that helps regulate magnesium and calcium levels in the body. Symptoms of ADPH can include muscle weakness, fatigue, and seiz  Read More

Autosomal dominant prognathism is a genetic disorder that causes the lower jaw to protrude further than normal. It is caused by a mutation in the gene that controls the development of the lower jaw. Symptoms of this disorder include an underbite, a protruding lower jaw, and a wide-set lower jaw. People with this disorder may also have difficulty speaking and eating.  Read More

Autosomal dominant progressive nephropathy with hypertension is a rare genetic disorder that affects the kidneys. It is characterized by progressive kidney damage, high blood pressure, and proteinuria (excess protein in the urine). It is caused by a mutation in the gene that codes for the protein nephrin, which is involved in the formation of the glomerular filtration barrier in the kidneys. Treatment typically involves controlling blood press  Read More

Autosomal dominant proximal renal tubular acidosis (ADRTA) is a rare inherited disorder that affects the kidneys. It is caused by a mutation in the SLC4A1 gene, which is responsible for the production of a protein called sodium bicarbonate cotransporter (NBC). This protein helps the kidneys regulate the acid-base balance in the body. People with ADRTA have a defect in the NBC protein, which leads to an inability to properly excrete acid from t  Read More

Autosomal dominant rhegmatogenous retinal detachment is a rare genetic disorder that affects the eyes. It is caused by a mutation in the COL2A1 gene, which is responsible for the production of collagen type II, a protein that helps to maintain the structure of the retina. People with this disorder are at risk of developing a retinal detachment, which is a separation of the retina from the back of the eye. Symptoms of this disorder include blur  Read More

Autosomal dominant Robinow syndrome is a rare genetic disorder that affects the development of bones and other parts of the body. It is caused by a mutation in the ROR2 gene and is inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is needed for a person to be affected by the disorder. Symptoms of the disorder can include short stature, skeletal abnormalities, facial dysmorphism, and genital abnormalitie  Read More

Autosomal dominant secondary polycythemia is a rare genetic disorder that is caused by a mutation in the EPOR gene. This mutation causes the body to produce too many red blood cells, leading to an increased risk of blood clots and other complications. Symptoms of this disorder include headaches, dizziness, fatigue, and shortness of breath. Treatment typically involves medications to reduce the number of red blood cells and to prevent blood clo  Read More

Autosomal dominant severe congenital neutropenia (AD-SCN) is a rare inherited disorder characterized by a deficiency of neutrophils, a type of white blood cell that helps the body fight infection. People with AD-SCN are at an increased risk of recurrent and severe bacterial infections. The disorder is caused by mutations in the ELANE gene, which is responsible for producing the neutrophil elastase enzyme. Treatment typically involves antibioti  Read More

Autosomal dominant slowed nerve conduction velocity (AD-SNCV) is a rare inherited disorder that affects the speed at which electrical signals travel along the nerves. It is caused by a mutation in the gene that codes for the protein myelin, which is responsible for insulating and protecting nerve fibers. People with AD-SNCV experience a decrease in the speed of nerve conduction, which can lead to a variety of symptoms, including muscle weaknes  Read More

Autosomal dominant spastic ataxia type 1 (ADSA1) is a rare, inherited neurological disorder characterized by progressive difficulty with coordination and balance (ataxia) and spasticity (stiffness and jerky movements) of the legs. It is caused by a mutation in the SACS gene, which is located on chromosome 5. Symptoms usually begin in childhood or adolescence and worsen over time. Treatment is supportive and may include physical therapy, occupa  Read More

Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare, inherited neurological disorder characterized by progressive spasticity (stiffness) and weakness of the legs. It is caused by mutations in the SPG10 gene, which is located on chromosome 14. Symptoms usually begin in childhood or adolescence and can include difficulty walking, stiffness in the legs, and weakness in the lower limbs. Other symptoms may include bladder and bowel prob  Read More

Autosomal dominant spastic paraplegia type 12 (SPG12) is a rare, inherited neurological disorder characterized by progressive spasticity (stiffness) and weakness of the legs. It is caused by mutations in the SPG12 gene, which is located on chromosome 12. Symptoms usually begin in childhood or adolescence and can include difficulty walking, stiffness in the legs, and weakness in the lower limbs. In some cases, the disorder can also cause cognit  Read More

Autosomal dominant spastic paraplegia type 13 (SPG13) is a rare, inherited neurological disorder characterized by progressive spasticity (stiffness) and weakness of the legs. It is caused by mutations in the KIF5A gene, which is responsible for the production of a protein involved in the transport of molecules within cells. Symptoms typically begin in childhood or adolescence and worsen over time. They may include difficulty walking, stiffness  Read More

Autosomal dominant spastic paraplegia type 17 (SPG17) is a rare, inherited neurological disorder characterized by progressive spasticity (stiffness) and weakness of the legs. It is caused by mutations in the SPG17 gene, which is located on chromosome 2. Symptoms typically begin in childhood or adolescence and worsen over time. Affected individuals may experience difficulty walking, balance problems, and muscle spasms. There is currently no cur  Read More

Autosomal dominant spastic paraplegia type 19 (SPG19) is a rare, inherited neurological disorder characterized by progressive spasticity (stiffness) and weakness of the legs. It is caused by mutations in the SPG19 gene, which is located on chromosome 17. Symptoms typically begin in childhood or adolescence and worsen over time. Affected individuals may experience difficulty walking, balance problems, and muscle spasms. There is currently no cu  Read More

Autosomal dominant spastic paraplegia type 29 (SPG29) is a rare, inherited neurological disorder characterized by progressive spasticity (stiffness) and weakness of the legs. It is caused by mutations in the SPG29 gene, which is located on chromosome 17. Symptoms typically begin in childhood or adolescence and worsen over time. Affected individuals may experience difficulty walking, balance problems, and muscle spasms. There is currently no cu  Read More

Autosomal dominant spastic paraplegia type 3 (SPG3) is a rare, inherited neurological disorder characterized by progressive spasticity (stiffness) and weakness of the lower limbs. It is caused by mutations in the SPG3A gene, which is located on chromosome 2. Symptoms usually begin in childhood or adolescence and may include difficulty walking, stiffness in the legs, and weakness in the arms and legs. In some cases, the disorder can also cause  Read More

Autosomal dominant spastic paraplegia type 31 (SPG31) is a rare, inherited neurological disorder characterized by progressive spasticity (stiffness and tightness of the muscles) and weakness of the lower limbs. It is caused by mutations in the SPG31 gene, which is located on chromosome 17. Symptoms typically begin in childhood or adolescence and worsen over time. Affected individuals may experience difficulty walking, balance problems, and bla  Read More

Autosomal dominant spastic paraplegia type 36 (SPG36) is a rare, inherited neurological disorder characterized by progressive spasticity (stiffness and difficulty with movement) of the lower limbs. It is caused by mutations in the SPG36 gene, which is located on chromosome 17. Symptoms typically begin in childhood or adolescence and may include difficulty walking, weakness in the legs, and spasticity of the lower limbs. Other symptoms may incl  Read More

Autosomal dominant spastic paraplegia type 37 (SPG37) is a rare, inherited neurological disorder characterized by progressive spasticity (stiffness) and weakness of the legs. It is caused by mutations in the SPG37 gene, which is located on chromosome 17. Symptoms typically begin in childhood or adolescence and worsen over time. Affected individuals may experience difficulty walking, balance problems, and muscle spasms. There is currently no cu  Read More

Autosomal dominant spastic paraplegia type 38 (SPG38) is a rare, inherited neurological disorder characterized by progressive spasticity (stiffness and difficulty with movement) of the lower limbs. It is caused by mutations in the KIF5A gene, which is involved in the transport of proteins within cells. Symptoms typically begin in childhood or adolescence and may include difficulty walking, weakness in the legs, and spasticity of the lower limb  Read More

Autosomal dominant spastic paraplegia type 4 (SPG4) is a rare, inherited neurological disorder characterized by progressive muscle stiffness and weakness in the legs (spasticity) and difficulty walking (paraplegia). It is caused by mutations in the SPG4 gene, which is responsible for producing a protein called spastin. Symptoms usually begin in adulthood and worsen over time. Treatment is supportive and may include physical therapy, medication  Read More

Autosomal dominant spastic paraplegia type 41 (SPG41) is a rare, inherited neurological disorder characterized by progressive spasticity (stiffness and difficulty with movement) of the lower limbs. It is caused by mutations in the SPG41 gene, which is located on chromosome 17. Symptoms typically begin in childhood or adolescence and may include difficulty walking, weakness in the legs, and spasticity of the lower limbs. Other symptoms may incl  Read More

Autosomal dominant spastic paraplegia type 42 (SPG42) is a rare, inherited neurological disorder characterized by progressive spasticity (stiffness) and weakness of the lower limbs. It is caused by mutations in the SPG42 gene, which is located on chromosome 17. Symptoms typically begin in childhood or adolescence and worsen over time. Affected individuals may experience difficulty walking, balance problems, and muscle spasms. Other symptoms ma  Read More

Autosomal dominant spastic paraplegia type 6 (SPG6) is a rare, inherited neurological disorder characterized by progressive spasticity (stiffness) and weakness of the lower limbs. It is caused by mutations in the SPG6 gene, which is located on chromosome 2. Symptoms typically begin in childhood or adolescence and worsen over time. They may include difficulty walking, stiffness in the legs, and weakness in the arms and legs. Other symptoms may  Read More

Autosomal dominant spastic paraplegia type 73 (SPG73) is a rare, inherited neurological disorder characterized by progressive spasticity (stiffness) and weakness of the legs. It is caused by mutations in the SPG73 gene, which is located on chromosome 17. Symptoms typically begin in childhood or adolescence and worsen over time. Affected individuals may experience difficulty walking, balance problems, and muscle spasms. There is currently no cu  Read More

Autosomal dominant spastic paraplegia type 8 (SPG8) is a rare, inherited neurological disorder characterized by progressive spasticity (stiffness) and weakness of the legs. It is caused by mutations in the KIF5A gene, which is responsible for the production of a protein involved in the transport of molecules within cells. Symptoms typically begin in childhood or adolescence and worsen over time. They may include difficulty walking, stiffness i  Read More

Autosomal dominant spastic paraplegia type 9A (SPG9A) is a rare, inherited neurological disorder characterized by progressive spasticity (stiffness) and weakness of the legs. It is caused by mutations in the KIF5A gene, which is responsible for the production of a protein involved in the transport of molecules within cells. Symptoms typically begin in childhood or adolescence and may include difficulty walking, stiffness in the legs, and weakn  Read More

Autosomal dominant spastic paraplegia type 9B (SPG9B) is a rare, inherited neurological disorder characterized by progressive spasticity (stiffness) and weakness of the legs. It is caused by mutations in the KIF5A gene, which is responsible for the production of a protein involved in the transport of molecules within cells. Symptoms typically begin in childhood or adolescence and may include difficulty walking, stiffness in the legs, and weakn  Read More

Autosomal dominant spondylocostal dysostosis (ADSD) is a rare genetic disorder that affects the development of the spine and ribs. It is characterized by a short, broad chest, a short neck, and a curved spine. People with ADSD may also have a short stature, scoliosis, and/or rib anomalies. The condition is caused by a mutation in the DLL3 gene and is inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is  Read More

Autosomal dominant striatal neurodegeneration (ADSN) is a rare, inherited neurological disorder characterized by progressive degeneration of the striatum, a part of the brain involved in movement and coordination. Symptoms typically begin in childhood or adolescence and include difficulty walking, involuntary movements, and cognitive decline. As the disease progresses, individuals may experience difficulty speaking, swallowing, and controlling  Read More

Autosomal dominant thrombocytopenia with platelet secretion defect (ADT-PSD) is a rare inherited disorder characterized by a decrease in the number of platelets in the blood (thrombocytopenia) and an inability of platelets to release their contents normally. This leads to a decrease in the amount of clotting factors released by the platelets, which can cause excessive bleeding. ADT-PSD is caused by mutations in the ITGA2B gene, which is respon  Read More

The symptoms of Autosomal Dominant Tubulo-Interstitial Kidney Disease (ADTKD) vary depending on the severity of the condition. Common symptoms include: -High blood pressure -Proteinuria (excess protein in the urine) -Kidney stones -Kidney enlargement -Frequent urination -Fatigue -Nausea -Vomiting -Loss of appetite -Weight loss -Itching -Muscle cramps -Swelling  Read More

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare genetic disorder that affects the kidneys. It is caused by mutations in the UMOD gene, which is responsible for the production of a protein called uromodulin. ADTKD is characterized by the progressive loss of kidney function due to the accumulation of abnormal proteins in the tubules of the kidneys. Symptoms of ADTKD include proteinuria, high blood pressure, and kidney fail  Read More

Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a rare genetic disorder that affects the eyes. It is characterized by progressive vision loss due to the degeneration of the retina, choroid, and vitreous. Symptoms may include decreased vision, night blindness, and the presence of floaters. Treatment typically involves laser therapy and/or surgery to slow the progression of the disease.  Read More

Autosomal recessive Alport syndrome is a genetic disorder that affects the kidneys and the ears. It is caused by mutations in the COL4A5 gene, which is responsible for producing type IV collagen, a protein that helps form the basement membrane of the kidneys and other organs. Symptoms of the disorder include hearing loss, proteinuria (excess protein in the urine), and kidney failure. It is inherited in an autosomal recessive pattern, meaning t  Read More

Autosomal recessive amelia is a rare genetic disorder characterized by the absence of one or more limbs. It is caused by a mutation in a gene on an autosome, which is one of the 22 pairs of chromosomes that are not involved in determining sex. People with this disorder typically have normal intelligence and can lead normal lives with the help of prosthetics and other assistive devices.  Read More

Autosomal recessive anterior segment dysgenesis (ARASD) is a rare genetic disorder that affects the development of the anterior segment of the eye. It is characterized by a range of abnormalities in the front part of the eye, including the cornea, iris, and lens. Symptoms can include reduced vision, clouding of the cornea, and increased pressure in the eye. Treatment typically involves the use of corrective lenses, medications, and/or surgery.  Read More

Autosomal recessive ataxia due to PEX10 deficiency is a rare genetic disorder caused by mutations in the PEX10 gene. It is characterized by progressive ataxia (lack of muscle coordination) and other neurological symptoms, including intellectual disability, seizures, and vision and hearing loss. It is inherited in an autosomal recessive pattern, meaning that both copies of the gene must be mutated for a person to be affected by the disorder.  Read More

Autosomal recessive ataxia due to ubiquinone deficiency is a rare genetic disorder caused by a deficiency of the enzyme coenzyme Q10 (ubiquinone). This disorder is characterized by progressive ataxia (lack of muscle coordination) and other neurological symptoms, such as difficulty speaking, swallowing, and walking. It is inherited in an autosomal recessive pattern, meaning that both copies of the gene in each cell have mutations. Treatment is  Read More

Autosomal recessive ataxia, Beauce type is a rare, inherited neurological disorder characterized by progressive difficulty with coordination and balance (ataxia). It is caused by mutations in the SLC25A4 gene and is inherited in an autosomal recessive manner, meaning that both copies of the gene in each cell have mutations. Symptoms typically begin in childhood and may include unsteady gait, difficulty walking, poor coordination, and muscle we  Read More

Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect is a rare inherited disorder caused by mutations in the ATP7A gene. This gene is responsible for the production of a protein that helps regulate copper levels in the body. People with this disorder have a defect in the way their bodies process copper, leading to a buildup of copper in the body. This can cause a variety of neurological symptoms, including mus  Read More

Autosomal recessive axonal neuropathy with neuromyotonia is a rare genetic disorder characterized by progressive muscle weakness and stiffness (neuromyotonia) and nerve damage (axonal neuropathy). It is caused by mutations in the SLC6A8 gene, which is responsible for the production of a protein called creatine transporter. Symptoms typically begin in childhood and may include muscle stiffness, muscle weakness, difficulty walking, and muscle cr  Read More

Autosomal recessive bestrophinopathy is a rare genetic disorder that affects the eyes and kidneys. It is caused by mutations in the BEST1 gene, which is responsible for producing a protein called bestrophin. This protein is important for maintaining the normal structure and function of the retina and the kidneys. Symptoms of this disorder include vision loss, kidney failure, and hearing loss.  Read More

Autosomal recessive brachyolmia is a rare genetic disorder that affects the bones and muscles. It is caused by mutations in the RMRP gene, which is responsible for the production of a protein that helps to maintain the structure of the skeleton. Symptoms of this disorder include short stature, joint stiffness, and muscle weakness. It is inherited in an autosomal recessive pattern, meaning that both copies of the gene must be mutated for a pers  Read More

Autosomal recessive centronuclear myopathy (AR-CNM) is a rare, inherited neuromuscular disorder characterized by muscle weakness and wasting (atrophy) that begins in infancy or early childhood. It is caused by mutations in the DNM2 gene, which is responsible for the production of a protein involved in muscle contraction. Symptoms of AR-CNM include muscle weakness, hypotonia (low muscle tone), delayed motor development, and difficulty walking.  Read More

Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency is a rare genetic disorder caused by mutations in the CWF19L1 gene. It is characterized by progressive difficulty with balance and coordination, as well as other neurological symptoms such as intellectual disability, seizures, and vision problems. It is inherited in an autosomal recessive pattern, meaning that both copies of the gene must be mutated for a person to be affected.  Read More

Autosomal recessive cerebellar ataxia due to STUB1 deficiency is a rare genetic disorder caused by mutations in the STUB1 gene. It is characterized by progressive ataxia (lack of coordination) of the limbs and trunk, as well as intellectual disability, seizures, and vision and hearing problems. The disorder is inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations.  Read More

Autosomal recessive cerebellar ataxia with late-onset spasticity (ARCA-S) is a rare, inherited neurological disorder characterized by progressive ataxia (lack of muscle coordination) and spasticity (stiffness and jerky movements) that usually begins in adulthood. Affected individuals may also experience difficulty with balance, walking, and speech. ARCA-S is caused by mutations in the SACS gene and is inherited in an autosomal recessive manner  Read More

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency is a rare genetic disorder caused by mutations in the RUBCN gene. It is characterized by progressive cerebellar ataxia (lack of coordination), epilepsy, intellectual disability, and other neurological problems. Affected individuals may also have difficulty speaking, walking, and controlling their movements. There is currently no cure for thi  Read More

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency is a rare genetic disorder caused by mutations in the TUD gene. It is characterized by progressive ataxia (lack of muscle coordination), epilepsy, intellectual disability, and other neurological problems. Affected individuals may also have difficulty walking, speaking, and swallowing. There is currently no cure for this disorder, but treatment  Read More

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare genetic disorder caused by mutations in the WWOX gene. It is characterized by a combination of cerebellar ataxia (a lack of coordination and balance), epilepsy, intellectual disability, and other neurological problems. Affected individuals may also have difficulty with speech, movement, and coordination. There is currently no cure f  Read More

Autosomal recessive cerebellar ataxia-movement disorder syndrome is a rare genetic disorder that affects the cerebellum, a part of the brain that controls movement. It is characterized by progressive difficulty with coordination, balance, and speech. Symptoms may include difficulty walking, clumsiness, tremors, and slurred speech. The disorder is caused by mutations in certain genes and is inherited in an autosomal recessive pattern, meaning t  Read More

Autosomal recessive cerebellar ataxia-psychomotor delay syndrome (ARCPD) is a rare genetic disorder characterized by progressive ataxia (loss of coordination) and psychomotor delay (slowed development). It is caused by mutations in the SLC25A12 gene, which is responsible for the production of a protein involved in energy production in cells. Symptoms of ARCPD include delayed motor development, ataxia, hypotonia (low muscle tone), intellectual  Read More

Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome (ARCA-PNS-NAO) is a rare, inherited neurological disorder characterized by progressive ataxia (lack of muscle coordination), pyramidal signs (abnormal reflexes), nystagmus (involuntary eye movements), and oculomotor apraxia (inability to move the eyes in a coordinated manner). Affected individuals may also experience difficulty with speech, swallowing,  Read More

Autosomal recessive cerebral atrophy (ARCA) is a rare genetic disorder that affects the brain and spinal cord. It is characterized by progressive degeneration of the brain and spinal cord, leading to physical and mental disability. Symptoms may include seizures, muscle weakness, difficulty walking, and intellectual disability. ARCA is caused by mutations in certain genes, and is inherited in an autosomal recessive pattern. Treatment is support  Read More

Autosomal recessive Charcot-Marie-Tooth disease type 2X (AR-CMT2X) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as sensory loss in the feet and hands. AR-CMT2X is caused by mutations in the GJB1 gene, which is responsible for producing a protein called connexin 32. This protein is important for the proper function  Read More

Autosomal recessive Charcot-Marie-Tooth disease with hoarseness is a rare genetic disorder that affects the peripheral nerves. It is caused by mutations in the GJB1 gene, which is responsible for the production of a protein called connexin 32. People with this disorder experience progressive muscle weakness and wasting, as well as hoarseness due to damage to the vocal cords. Other symptoms may include numbness, tingling, and pain in the hands  Read More

Autosomal recessive chorioretinopathy-microcephaly syndrome (ARCM) is a rare genetic disorder characterized by a combination of eye abnormalities, including chorioretinopathy (damage to the retina) and microcephaly (abnormally small head size). Affected individuals may also have intellectual disability, seizures, and/or other neurological problems. ARCM is caused by mutations in the CEP290 gene and is inherited in an autosomal recessive manner  Read More

Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction is a rare genetic disorder that affects the nervous system. It is caused by mutations in the KIF5A gene, which is responsible for the production of a protein called kinesin-1. This protein is involved in the movement of molecules within cells, and when it is not functioning properly, it can lead to a variety of neurological symptoms, including spasticity, muscle  Read More

Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare genetic disorder caused by mutations in the GRID2 gene. It is characterized by a lack of coordination and balance (ataxia) that is present from birth (congenital). Affected individuals may also have intellectual disability, seizures, and/or vision problems. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each  Read More

Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare genetic disorder caused by mutations in the MGLUR1 gene. This gene is responsible for the production of a protein called metabotropic glutamate receptor 1 (mGluR1). This protein is involved in the regulation of neurotransmitter release in the brain. People with this disorder have difficulty with coordination, balance, and movement due to the lack of mGluR1. Sym  Read More

Autosomal recessive cutis laxa type 1 (ARCL1) is a rare genetic disorder characterized by loose, wrinkled skin, joint laxity, and a variety of other symptoms. It is caused by mutations in the ATP6V0A2 gene, which is responsible for the production of a protein involved in the production of energy in cells. People with ARCL1 typically have a distinctive facial appearance, including a long face, prominent eyes, and a thin upper lip. Other symptom  Read More

Autosomal recessive cutis laxa type 2, classic type is a rare genetic disorder characterized by loose, wrinkled skin, joint laxity, and a variety of other symptoms. It is caused by mutations in the ATP6V0A2 gene, which is responsible for the production of a protein involved in the production of energy in cells. People with this condition typically have a normal life expectancy, but may experience a variety of complications related to their ski  Read More

Autosomal recessive cutis laxa type 2A is a rare genetic disorder characterized by loose, wrinkled skin, joint laxity, and a variety of other symptoms. It is caused by mutations in the ATP6V0A2 gene, which is responsible for the production of a protein involved in the production of energy in cells. People with this condition may also have skeletal abnormalities, heart defects, and intellectual disability. Treatment is supportive and may includ  Read More

Autosomal recessive cutis laxa type 2B is a rare genetic disorder characterized by loose, wrinkled skin, joint laxity, and a variety of other symptoms. It is caused by mutations in the ATP6V0A2 gene, which is responsible for the production of a protein involved in the production of energy in cells. People with this condition may also have skeletal abnormalities, heart defects, and intellectual disability. Treatment is supportive and may includ  Read More

Autosomal recessive distal osteolysis syndrome (ARDOS) is a rare genetic disorder characterized by progressive destruction of the bones in the hands and feet. It is caused by mutations in the WNT1 gene, which is responsible for the production of a protein involved in bone formation. Symptoms of ARDOS include pain, swelling, and deformity of the hands and feet, as well as difficulty walking. Treatment typically involves physical therapy, medica  Read More

Autosomal recessive distal renal tubular acidosis (dRTA) is a rare inherited disorder that affects the kidneys' ability to regulate acid-base balance in the body. It is caused by a mutation in the SLC4A1 gene, which is responsible for the production of a protein called anion exchanger 1 (AE1). This protein helps the kidneys to reabsorb bicarbonate, a chemical that helps to neutralize acid in the body. When the AE1 protein is not functioning pr  Read More

Autosomal recessive dopa-responsive dystonia (DRD) is a rare inherited neurological disorder that is characterized by dystonia, a movement disorder that causes involuntary muscle contractions and abnormal postures. It is caused by a mutation in the GCH1 gene, which is responsible for producing the enzyme GTP cyclohydrolase 1. This enzyme is necessary for the production of the neurotransmitter dopamine, which is important for controlling moveme  Read More

Autosomal recessive Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetic disorder that affects the muscles and connective tissues. It is caused by mutations in the EMD gene, which is responsible for producing a protein called emerin. This protein helps to maintain the structure of the muscle cells. Symptoms of EDMD usually begin in childhood and include muscle weakness, joint contractures, and cardiac problems. Over time, the muscle weak  Read More

Autosomal recessive epidermolytic ichthyosis (ARCI) is a rare genetic skin disorder that is characterized by thick, scaly skin. It is caused by mutations in the keratin 1 or keratin 10 genes, which are responsible for producing proteins that form the structural framework of the skin. Symptoms of ARCI usually appear at birth or in early infancy and include red, scaly skin that is prone to blistering and infection. Treatment typically involves t  Read More

Autosomal recessive extra-oral halitosis is a rare genetic disorder characterized by an unpleasant odor emanating from the mouth and nose. It is caused by a mutation in the gene responsible for the production of an enzyme called cytochrome P450 2E1 (CYP2E1). This enzyme is responsible for breaking down certain compounds in the body, including alcohol and other toxins. People with this disorder have a reduced ability to break down these compoun  Read More

Autosomal recessive faciodigitogenital syndrome (FDG) is a rare genetic disorder that affects the development of the face, digits, and genitals. It is caused by a mutation in the gene that codes for the enzyme dihydropyrimidine dehydrogenase (DPD). Symptoms of FDG include facial dysmorphism, syndactyly (webbed fingers and toes), and genital malformations. Other features may include intellectual disability, growth retardation, and hearing loss.  Read More

Autosomal recessive frontotemporal pachygyria (ARFT) is a rare genetic disorder characterized by abnormal development of the brain's frontal and temporal lobes. It is caused by mutations in the ARFGEF2 gene, which is responsible for the production of a protein that helps regulate the development of the brain. Symptoms of ARFT can include intellectual disability, seizures, and motor and speech delays.  Read More

Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form (AR-GDEB-IF) is a rare genetic disorder that affects the skin and mucous membranes. It is caused by mutations in the COL7A1 gene, which is responsible for producing type VII collagen, a protein that helps form the anchoring fibrils that attach the epidermis to the dermis. People with AR-GDEB-IF experience recurrent blistering of the skin and mucous membranes, w  Read More

Autosomal recessive generalized epidermolysis bullosa simplex (AR-G-EBS) is a rare genetic disorder that affects the skin. It is caused by mutations in the KRT5 or KRT14 genes, which are responsible for producing proteins that help form the skin's outer layer. People with AR-G-EBS have fragile skin that blisters and tears easily, even with minimal trauma. Blisters can form anywhere on the body, including the hands, feet, and face. Other sympto  Read More

Autosomal Recessive Hyper IgE Syndrome (AR-HIES) is a rare, inherited disorder characterized by recurrent skin and lung infections, elevated levels of immunoglobulin E (IgE), and other immune system abnormalities. It is caused by mutations in the STAT3 gene, which is responsible for regulating the body's immune response. Symptoms of AR-HIES can include recurrent skin infections, recurrent lung infections, recurrent sinus infections, eczema, an  Read More

Autosomal recessive hyperinsulinism due to Kir6.2 deficiency is a rare genetic disorder caused by mutations in the KCNJ11 gene, which encodes the Kir6.2 protein. This disorder is characterized by excessive insulin production, resulting in hypoglycemia (low blood sugar). Symptoms of this disorder can include seizures, developmental delay, and failure to thrive. Treatment typically involves a combination of medications and dietary modifications.  Read More

Autosomal recessive hyperinsulinism due to SUR1 deficiency is a rare genetic disorder caused by a mutation in the ABCC8 gene, which encodes the SUR1 protein. This disorder is characterized by excessive insulin production, resulting in hypoglycemia (low blood sugar). Symptoms of this disorder can include seizures, developmental delay, and failure to thrive. Treatment typically involves a combination of medications, dietary changes, and surgery.  Read More

Autosomal recessive hypohidrotic ectodermal dysplasia (AR-HED) is a rare genetic disorder that affects the development of the skin, hair, teeth, and sweat glands. People with AR-HED have sparse or absent scalp and body hair, dry skin, and missing or malformed teeth. They also have difficulty sweating, which can lead to overheating and other health problems. AR-HED is caused by mutations in the EDA, EDAR, or EDARADD genes. Treatment typically i  Read More

Autosomal recessive hypophosphatemic rickets is a rare inherited disorder that affects the body's ability to absorb and use phosphorus. It is caused by mutations in the PHEX gene, which is responsible for producing an enzyme that helps regulate the amount of phosphate in the body. Symptoms of this disorder include bone deformities, short stature, and muscle weakness. Treatment typically involves taking phosphate supplements and vitamin D to he  Read More

Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) is a rare genetic disorder that affects the body's ability to absorb and use phosphorus. It is caused by mutations in the SLC34A3 gene, which is responsible for the production of a protein that helps regulate the absorption of phosphorus in the intestines. People with ARHR2 have low levels of phosphorus in their blood, which can lead to weakened bones, stunted growth, and other health  Read More

Autosomal recessive infantile hypercalcemia is a rare genetic disorder that is characterized by abnormally high levels of calcium in the blood. It is caused by mutations in the CASR gene, which is responsible for regulating calcium levels in the body. Symptoms of this disorder include vomiting, dehydration, constipation, and failure to thrive. Treatment typically involves medications to reduce calcium levels, as well as dietary changes and cal  Read More

Autosomal recessive intermediate Charcot-Marie-Tooth disease type A (AR-CMT A) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by slowly progressive muscle weakness and wasting (atrophy) of the lower legs, feet, and hands, as well as sensory loss in the feet and hands. AR-CMT A is caused by mutations in the GJB1 gene, which is responsible for producing a protein called connexin 32. This protein  Read More

Autosomal recessive intermediate Charcot-Marie-Tooth disease type B (AR-CMTB) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by slowly progressive muscle weakness and wasting (atrophy) of the lower legs, feet, and hands, as well as sensory loss in the feet and hands. AR-CMTB is caused by mutations in the GDAP1 gene, which is responsible for producing a protein that helps maintain the structure  Read More

Autosomal recessive intermediate Charcot-Marie-Tooth disease type C (AR-CMT2C) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by slowly progressive muscle weakness and wasting (atrophy) of the lower legs, feet, and hands, as well as sensory loss in the feet and hands. Other symptoms may include foot deformities, such as high arches, hammertoes, and claw toes. AR-CMT2C is caused by mutations in  Read More

Autosomal recessive intermediate Charcot-Marie-Tooth disease type D (AR-CMTD) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by slowly progressive muscle weakness and wasting (atrophy) of the lower legs, feet, and hands, as well as sensory loss in the feet and hands. AR-CMTD is caused by mutations in the GDAP1 gene, which is responsible for producing a protein that helps maintain the structure  Read More

Autosomal recessive isolated optic atrophy (ARIO) is a rare genetic disorder that affects the optic nerve, causing vision loss. It is caused by mutations in the OPA1 gene, which is responsible for the production of a protein that helps maintain the structure and function of the mitochondria. Symptoms of ARIO include decreased vision, color vision loss, and decreased visual acuity. In some cases, the condition can lead to complete blindness. Tr  Read More

Autosomal recessive Kenny-Caffey syndrome is a rare genetic disorder that affects the growth and development of bones. It is characterized by short stature, delayed bone age, and abnormalities of the bones in the hands and feet. Other features may include intellectual disability, seizures, and vision and hearing problems. The condition is caused by mutations in the TBCE gene and is inherited in an autosomal recessive pattern.  Read More

Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (ARLNSP) is a rare, inherited neurological disorder that affects the development of the nervous system. It is characterized by severe muscle weakness, poor coordination, and sensory disturbances. Affected infants typically experience severe respiratory distress shortly after birth and may die within the first few weeks of life. There is currently no cure for ARLNSP, but sup  Read More

Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome (ARIS) is a rare genetic disorder characterized by a combination of neurological and ocular symptoms. It is caused by mutations in the SLC25A12 gene, which is responsible for the production of a protein involved in the transport of mitochondrial metabolites. Symptoms of ARIS include progressive leukoencephalopathy (white matter disease of the brain), ischemic  Read More

Autosomal recessive lower motor neuron disease with childhood onset is a rare genetic disorder that affects the lower motor neurons in the brain and spinal cord. It is characterized by progressive muscle weakness and wasting, as well as difficulty with coordination and balance. Symptoms usually begin in early childhood and can include muscle weakness, difficulty walking, and difficulty speaking. Other symptoms may include difficulty swallowing  Read More

Autosomal recessive malignant osteopetrosis is a rare genetic disorder that affects the bones. It is caused by mutations in the CLCN7 gene, which is responsible for the production of a protein that helps regulate the activity of certain cells in the bone. People with this disorder have bones that are abnormally dense and brittle, leading to fractures, deformities, and other complications. In some cases, the disorder can also affect other organ  Read More

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency is a rare genetic disorder caused by mutations in the RORgamma gene. This gene is responsible for the production of a protein called RORgamma, which is involved in the regulation of the immune system. People with this disorder are more susceptible to infections caused by mycobacteria, such as tuberculosis and leprosy. Symptoms of  Read More

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency is a rare genetic disorder caused by mutations in the JAK1 gene. This disorder affects the immune system, making it more susceptible to mycobacterial infections, such as tuberculosis. People with this disorder may experience recurrent infections, fever, and other symptoms. Treatment typically involves antibiotics and other medications to help  Read More

Autosomal recessive multiple pterygium syndrome (ARMP) is a rare genetic disorder characterized by multiple pterygia (webbed skin folds) on the neck, arms, legs, and other parts of the body. It is caused by mutations in the PTPN11 gene, which is responsible for the production of a protein called SHP2. Symptoms of ARMP can include joint contractures, muscle weakness, respiratory problems, and developmental delays. Treatment typically involves p  Read More

Autosomal recessive myogenic arthrogryposis multiplex congenita (AR-MMC) is a rare genetic disorder characterized by multiple joint contractures (stiffness) and muscle weakness that is present at birth. It is caused by mutations in genes that are involved in the development of muscles and joints. Affected individuals may have difficulty with movement, breathing, and feeding. Treatment is supportive and may include physical and occupational the  Read More

Autosomal recessive nail dysplasia is a rare genetic disorder that affects the nails. It is characterized by the abnormal growth and development of the nails, which can be thickened, discolored, and brittle. It is caused by mutations in the genes responsible for the formation of the nails. The condition is inherited in an autosomal recessive pattern, meaning that both copies of the gene must be mutated for a person to be affected.  Read More

Autosomal recessive omodysplasia is a rare genetic disorder that affects the development of bones and joints. It is caused by mutations in the gene that codes for the protein filamin B. Symptoms of this disorder include short stature, joint stiffness, and skeletal abnormalities. People with this disorder may also have intellectual disability, hearing loss, and vision problems. Treatment is supportive and may include physical therapy, occupatio  Read More

Autosomal recessive optic atrophy, OPA7 type is a rare genetic disorder that affects the eyes. It is caused by mutations in the OPA7 gene, which is responsible for producing a protein that is essential for the normal functioning of the optic nerve. Symptoms of this disorder include decreased vision, night blindness, and color vision deficits. In some cases, people with this disorder may also experience nystagmus, or involuntary eye movements.  Read More

Autosomal recessive palmoplantar keratoderma and congenital alopecia is a rare genetic disorder characterized by thickening of the skin on the palms and soles of the feet (palmoplantar keratoderma) and hair loss (alopecia) at birth. It is caused by mutations in the GJB6 gene, which is responsible for the production of a protein called connexin 30. This protein is important for the normal development of the skin and hair follicles. People with  Read More

Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a rare genetic disorder that affects the kidneys and liver. It is caused by a mutation in the PKHD1 gene, which is responsible for the production of a protein called fibrocystin. This protein helps regulate the growth and development of the kidneys and liver. People with ARPKD typically have multiple cysts in their kidneys and liver, which can lead to kidney failure and other complicatio  Read More

Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity (AR-NKCC) is a rare genetic disorder that affects the immune system. People with this condition have an increased risk of recurrent infections due to a lack of natural killer (NK) cells, which are a type of white blood cell that helps the body fight off infections. People with AR-NKCC have a defect in the gene that codes for the NK cell rec  Read More

Autosomal recessive progressive external ophthalmoplegia (AR-PEO) is a rare genetic disorder that affects the muscles that control eye movement. It is characterized by progressive weakness and paralysis of the muscles that control eye movement, resulting in drooping eyelids, double vision, and difficulty looking up and down. It is caused by mutations in the mitochondrial DNA, which is passed down from the mother. Treatment is focused on managi  Read More

Autosomal recessive proximal renal tubular acidosis (AR-PRTA) is a rare inherited disorder that affects the kidneys. It is caused by a mutation in the SLC4A1 gene, which is responsible for the production of a protein called sodium bicarbonate cotransporter (NBC). This protein helps the kidneys to regulate the acid-base balance in the body. People with AR-PRTA have a defect in the NBC protein, which leads to an inability to properly excrete aci  Read More

Autosomal recessive Robinow syndrome is a rare genetic disorder that affects the development of bones and other parts of the body. It is caused by mutations in the ROR2 gene. Symptoms can include short stature, skeletal abnormalities, facial dysmorphism, and intellectual disability.  Read More

Autosomal recessive secondary polycythemia not associated with VHL gene is a rare genetic disorder characterized by an increase in the number of red blood cells in the body. It is caused by mutations in genes other than the VHL gene, which is responsible for the more common form of secondary polycythemia. Symptoms of this disorder may include headaches, dizziness, fatigue, and shortness of breath. Treatment typically involves phlebotomy (remov  Read More

Autosomal recessive severe congenital neutropenia due to CSF3R deficiency is a rare genetic disorder that affects the production of neutrophils, a type of white blood cell. People with this disorder have a mutation in the CSF3R gene, which is responsible for producing the protein needed for the production of neutrophils. This mutation leads to a decrease in the number of neutrophils, which can cause recurrent infections, delayed growth, and ot  Read More

Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency is a rare genetic disorder that affects the body's ability to produce neutrophils, a type of white blood cell that helps fight infection. People with this disorder have very low levels of neutrophils, which can lead to frequent and severe infections. The disorder is caused by mutations in the CXCR2 gene, which provides instructions for making a protein that helps regulat  Read More

Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency is a rare genetic disorder caused by mutations in the G6PC3 gene. This disorder is characterized by a severe reduction in the number of neutrophils, a type of white blood cell that helps fight infection. People with this disorder are at increased risk of recurrent and severe bacterial infections. Treatment typically involves antibiotics and other medications to help boos  Read More

Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency is a rare genetic disorder caused by mutations in the JAGN1 gene. It is characterized by a severe reduction in the number of neutrophils, a type of white blood cell that helps fight infection. People with this disorder are at increased risk of recurrent infections, which can be life-threatening. Treatment typically involves antibiotics and other medications to reduce the  Read More

Autosomal recessive sideroblastic anemia is a rare inherited blood disorder in which the body is unable to produce enough healthy red blood cells. It is caused by a genetic mutation that affects the production of hemoglobin, the protein in red blood cells that carries oxygen throughout the body. Symptoms of the disorder include fatigue, pale skin, shortness of breath, and an enlarged spleen. Treatment typically involves taking iron supplements  Read More

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare, inherited neurological disorder that affects the nervous system. It is characterized by progressive spasticity, ataxia, and intellectual disability. Symptoms usually begin in early childhood and can include difficulty walking, muscle stiffness, and poor coordination. Other symptoms may include seizures, vision problems, hearing loss, and speech difficulties. ARSACS i  Read More

Autosomal recessive spastic ataxia with leukoencephalopathy (ARSAL) is a rare, inherited neurological disorder characterized by progressive spasticity, ataxia, and leukoencephalopathy. Symptoms typically begin in childhood and include difficulty walking, muscle stiffness, and poor coordination. Other features may include intellectual disability, seizures, and vision and hearing problems. ARSAL is caused by mutations in the SACS gene and is inh  Read More

Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome (ARSOD) is a rare genetic disorder characterized by progressive spasticity, ataxia, optic atrophy, and dysarthria. It is caused by mutations in the SLC25A12 gene, which is responsible for the production of a mitochondrial protein involved in energy production. Symptoms typically begin in childhood and worsen over time. Treatment is supportive and may include physical therapy,  Read More

Autosomal recessive spastic paraplegia type 11 (SPG11) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SPG11 gene, which is responsible for producing a protein called paraplegin. Symptoms usually begin in childhood or adolescence and may include difficulty walking, muscle stiffness, and weakness in the legs. In some cases, the disor  Read More

Autosomal recessive spastic paraplegia type 14 (SPG14) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SPG14 gene, which is responsible for producing a protein called paraplegin. Symptoms usually begin in childhood or adolescence and may include difficulty walking, muscle stiffness, and weakness in the legs. In some cases, the disor  Read More

Autosomal recessive spastic paraplegia type 15 (SPG15) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SPG15 gene, which is responsible for producing a protein called paraplegin. Symptoms usually begin in childhood or adolescence and may include difficulty walking, muscle stiffness, and weakness in the legs. In some cases, the disor  Read More

Autosomal recessive spastic paraplegia type 18 (SPG18) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SPG18 gene, which is located on chromosome 17. Symptoms usually begin in childhood or adolescence and may include difficulty walking, difficulty with balance, and muscle spasms. In some cases, the disorder may also affect the arms  Read More

Autosomal recessive spastic paraplegia type 20 (SPG20) is a rare, inherited neurological disorder characterized by progressive spasticity (stiffness and difficulty with movement) of the lower limbs. It is caused by mutations in the SPG20 gene, which is located on chromosome 17. Symptoms typically begin in childhood or adolescence and may include difficulty walking, weakness in the legs, and spasticity of the lower limbs. Other symptoms may inc  Read More

Autosomal recessive spastic paraplegia type 21 (SPG21) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SPG21 gene, which is located on chromosome 14. Symptoms usually begin in childhood or adolescence and may include difficulty walking, difficulty with balance, and muscle spasms. Over time, the condition can lead to difficulty with  Read More

Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the KIF5A gene, which is involved in the transport of proteins within cells. Symptoms usually begin in childhood or adolescence and may include difficulty walking, muscle spasms, and difficulty with balance and coordination. In some ca  Read More

Autosomal recessive spastic paraplegia type 24 (SPG24) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SPG24 gene, which is involved in the formation of the myelin sheath, a protective coating around nerve cells. Symptoms usually begin in childhood or adolescence and may include difficulty walking, muscle spasms, and difficulty with  Read More

Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SPG25 gene, which is responsible for producing a protein called paraplegin. Symptoms usually begin in childhood or adolescence and may include difficulty walking, muscle stiffness, and weakness in the legs. In some cases, the disor  Read More

Autosomal recessive spastic paraplegia type 26 (SPG26) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the KIF5A gene, which is responsible for the production of a protein that helps transport materials within cells. Symptoms typically begin in childhood or adolescence and worsen over time. Affected individuals may experience difficulty  Read More

Autosomal recessive spastic paraplegia type 27 (SPG27) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SPG27 gene, which is responsible for producing a protein called paraplegin. Symptoms typically begin in childhood or adolescence and worsen over time. Affected individuals may experience difficulty walking, balance problems, and mu  Read More

Autosomal recessive spastic paraplegia type 28 (SPG28) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the KIF5A gene, which is responsible for the production of a protein that helps transport materials within cells. Symptoms typically begin in childhood or adolescence and may include difficulty walking, muscle stiffness, and weakness i  Read More

Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SPG11 gene, which is involved in the formation of the myelin sheath, a protective coating around nerve cells. Symptoms usually begin in childhood and worsen over time, leading to difficulty walking and other mobility issues. Other  Read More

Autosomal recessive spastic paraplegia type 35 (SPG35) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the KIF5A gene, which is responsible for the production of a protein that helps transport materials within cells. Symptoms usually begin in childhood or adolescence and may include difficulty walking, muscle stiffness, and weakness in  Read More

Autosomal recessive spastic paraplegia type 39 (SPG39) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SLC33A1 gene, which is responsible for the production of a protein called acetyl-CoA synthetase. Symptoms typically begin in childhood or adolescence and worsen over time. Affected individuals may experience difficulty walking, bal  Read More

Autosomal recessive spastic paraplegia type 43 (SPG43) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the KIF5A gene, which is responsible for the production of a protein that helps transport materials within cells. Symptoms typically begin in childhood or adolescence and worsen over time. Affected individuals may experience difficulty  Read More

Autosomal recessive spastic paraplegia type 44 (SPG44) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SLC33A1 gene, which is responsible for the production of a protein called acetyl-CoA synthetase. Symptoms typically begin in childhood or adolescence and worsen over time. Affected individuals may experience difficulty walking, bal  Read More

Autosomal recessive spastic paraplegia type 45 (SPG45) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SPG45 gene, which is located on chromosome 17. Symptoms usually begin in childhood or adolescence and may include difficulty walking, difficulty with balance, and muscle spasms. In some cases, the disorder may also affect the arms  Read More

Autosomal recessive spastic paraplegia type 46 (SPG46) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SLC33A1 gene, which is responsible for the production of a protein called acetyl-CoA synthetase. Symptoms typically begin in childhood or adolescence and worsen over time. Affected individuals may experience difficulty walking, bal  Read More

Autosomal recessive spastic paraplegia type 48 (SPG48) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SLC33A1 gene, which is responsible for the production of a protein called acetyl-CoA synthetase. Symptoms typically begin in childhood or adolescence and worsen over time. Affected individuals may experience difficulty walking, bal  Read More

Autosomal recessive spastic paraplegia type 53 (SPG53) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the KIF5A gene, which is involved in the transport of proteins within cells. Symptoms usually begin in childhood or adolescence and may include difficulty walking, muscle spasms, and difficulty with balance and coordination. In some ca  Read More

Autosomal recessive spastic paraplegia type 54 (SPG54) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the KIF5A gene, which is involved in the transport of proteins within cells. Symptoms usually begin in childhood or adolescence and may include difficulty walking, muscle spasms, and difficulty with balance and coordination. In some ca  Read More

Autosomal recessive spastic paraplegia type 55 (SPG55) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the KIF5A gene, which is responsible for the production of a protein that helps transport materials within cells. Symptoms usually begin in childhood and worsen over time, leading to difficulty walking and other mobility issues.  Read More

Autosomal recessive spastic paraplegia type 56 (SPG56) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the KIF5A gene, which is involved in the transport of proteins within cells. Symptoms usually begin in childhood or adolescence and may include difficulty walking, muscle spasms, and difficulty with balance and coordination. In some ca  Read More

Autosomal recessive spastic paraplegia type 57 (SPG57) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the KIF5A gene, which is responsible for the production of a protein that helps transport materials within cells. Symptoms usually begin in childhood and worsen over time, leading to difficulty walking and other mobility issues.  Read More

Autosomal recessive spastic paraplegia type 59 (SPG59) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the KIF5A gene, which is involved in the transport of proteins within cells. Symptoms usually begin in childhood or adolescence and may include difficulty walking, muscle spasms, and difficulty with balance and coordination. In some ca  Read More

Autosomal recessive spastic paraplegia type 5A (SPG5A) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SPG5 gene, which is responsible for producing a protein called paraplegin. Symptoms typically begin in childhood or adolescence and may include difficulty walking, muscle spasms, and difficulty with balance and coordination. In som  Read More

Autosomal recessive spastic paraplegia type 60 (SPG60) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the KIF5A gene, which is responsible for the production of a protein that helps transport materials within cells. Symptoms usually begin in childhood or adolescence and may include difficulty walking, muscle stiffness, and weakness in  Read More

Autosomal recessive spastic paraplegia type 61 (SPG61) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the KIF5A gene, which is involved in the transport of proteins within cells. Symptoms usually begin in childhood or adolescence and may include difficulty walking, muscle spasms, and difficulty with balance and coordination. In some ca  Read More

Autosomal recessive spastic paraplegia type 62 (SPG62) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SLC33A1 gene, which is responsible for the production of a protein called aspartoacylase. Symptoms usually begin in childhood or adolescence and may include difficulty walking, muscle stiffness, and weakness in the legs. Other symp  Read More

Autosomal recessive spastic paraplegia type 63 (SPG63) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SLC12A6 gene, which is involved in the transport of chloride ions across cell membranes. Symptoms typically begin in childhood or adolescence and worsen over time. Affected individuals may experience difficulty walking, balance pro  Read More

Autosomal recessive spastic paraplegia type 64 (SPG64) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SLC33A1 gene, which is responsible for the production of a protein called acetyl-CoA synthetase. Symptoms typically begin in childhood or adolescence and worsen over time. Affected individuals may experience difficulty walking, bal  Read More

Autosomal recessive spastic paraplegia type 66 (SPG66) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SLC12A6 gene, which is responsible for the production of a protein involved in the transport of chloride ions across cell membranes. Symptoms typically begin in childhood or adolescence and worsen over time. Affected individuals ma  Read More

Autosomal recessive spastic paraplegia type 67 (SPG67) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SLC33A1 gene, which is responsible for the production of a protein called acetyl-CoA synthetase. Symptoms typically begin in childhood or adolescence and worsen over time. Affected individuals may experience difficulty walking, bal  Read More

Autosomal recessive spastic paraplegia type 69 (SPG69) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the KIF5A gene, which is involved in the transport of proteins within cells. Symptoms usually begin in childhood or adolescence and may include difficulty walking, muscle spasms, and difficulty with balance and coordination. In some ca  Read More

Autosomal recessive spastic paraplegia type 70 (SPG70) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the KIF5A gene, which is responsible for the production of a protein that helps transport materials within cells. Symptoms usually begin in childhood or adolescence and may include difficulty walking, muscle spasms, and difficulty with  Read More

Autosomal recessive spastic paraplegia type 71 (SPG71) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the KIF5A gene, which is involved in the transport of proteins within cells. Symptoms usually begin in childhood or adolescence and may include difficulty walking, muscle spasms, and difficulty with balance and coordination. In some ca  Read More

Autosomal recessive spastic paraplegia type 74 (SPG74) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SLC33A1 gene, which is responsible for the production of a protein called acetyl-CoA synthetase. Symptoms typically begin in childhood or adolescence and worsen over time. Affected individuals may experience difficulty walking, bal  Read More

Autosomal recessive spastic paraplegia type 75 (SPG75) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SLC33A1 gene, which is responsible for the production of a protein called aspartoacylase. Symptoms usually begin in childhood and worsen over time, leading to difficulty walking and other mobility issues. SPG75 is a form of heredit  Read More

Autosomal recessive spastic paraplegia type 76 (SPG76) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SLC33A1 gene, which is responsible for the production of a protein called acetyl-CoA synthetase. Symptoms typically begin in childhood and worsen over time, leading to difficulty walking and other mobility issues.  Read More

Autosomal recessive spastic paraplegia type 77 (SPG77) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SLC33A1 gene, which is responsible for the production of a protein called acetyl-CoA synthetase. Symptoms typically begin in childhood and worsen over time, leading to difficulty walking and other mobility issues. SPG77 is inherite  Read More

Autosomal recessive spastic paraplegia type 78 (SPG78) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the KIF5A gene, which is involved in the transport of proteins within cells. Symptoms usually begin in childhood or adolescence and may include difficulty walking, muscle spasms, and difficulty with balance and coordination. In some ca  Read More

Autosomal recessive spastic paraplegia type 9B (SPG9B) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the KIF5A gene. Symptoms usually begin in childhood or adolescence and may include difficulty walking, difficulty with balance, and muscle spasms. In some cases, the disorder may also affect the arms and hands. Treatment is symptomatic  Read More

Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome (ARSA-BD) is a rare genetic disorder characterized by progressive ataxia (loss of coordination), blindness, and deafness. It is caused by mutations in the PEX1 gene, which is responsible for the production of the enzyme peroxisomal biogenesis factor 1 (PEX1). This enzyme is essential for the formation and maintenance of peroxisomes, which are organelles that play a role in  Read More

At this time, there is no cure for Autosomal recessive spondylometaphyseal dysplasia, Megarbane type. Treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, orthopedic surgery, and medications to help manage pain and other symptoms.  Read More

Autosomal recessive Stickler syndrome is a genetic disorder that affects the eyes, ears, and joints. It is caused by mutations in the COL2A1 gene, which is responsible for producing collagen, a protein that helps give structure to the body's tissues and organs. Symptoms of Stickler syndrome include hearing loss, vision problems, cleft palate, and joint problems. People with this condition may also have a distinctive facial appearance, includin  Read More

Autosomal semi-dominant severe lipodystrophic laminopathy is a rare genetic disorder characterized by the progressive loss of fat tissue in the body, leading to a variety of physical and metabolic complications. It is caused by mutations in the LMNA gene, which is responsible for the production of lamin A and C proteins. These proteins are important for the structure and function of the nuclear envelope, which is the outer membrane of the nucl  Read More

Autosomal spastic paraplegia type 30 (SPG30) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SPG30 gene, which is located on chromosome 17. Symptoms usually begin in childhood or adolescence and may include difficulty walking, muscle spasms, and difficulty with balance and coordination. In some cases, the disorder can also affect th  Read More

Autosomal spastic paraplegia type 58 (SPG58) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the KIF5A gene, which is involved in the transport of proteins within cells. Symptoms typically begin in childhood or adolescence and may include difficulty walking, muscle spasms, and difficulty with balance and coordination. In some cases, the  Read More

Autosomal spastic paraplegia type 72 (SPG72) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SPG72 gene, which is located on chromosome 17. Symptoms usually begin in childhood or adolescence and may include difficulty walking, stiffness in the legs, and muscle weakness. In some cases, the disorder may also cause intellectual disabil  Read More

Autosomal systemic lupus erythematosus (SLE) is an autoimmune disorder that affects multiple organs and systems in the body. It is a chronic, inflammatory disease that can cause a wide range of symptoms, including fatigue, joint pain, skin rashes, and fever. SLE is caused by the body's immune system attacking its own tissues and organs, leading to inflammation and tissue damage. Treatment for SLE typically involves medications to reduce inflam  Read More

Autosomal thrombocytopenia with normal platelets is a rare inherited disorder characterized by a low platelet count in the blood, despite normal platelet production. It is caused by a mutation in the gene that codes for the platelet surface protein, GPIIb/IIIa. This mutation results in a decrease in the number of platelets that can bind to the surface of blood vessels, leading to a decrease in the number of platelets circulating in the blood.  Read More

Avian influenza, also known as bird flu, is a type of influenza virus that primarily affects birds. It can sometimes spread to humans, causing severe respiratory illness. Avian influenza viruses are divided into two categories based on their ability to cause disease in humans: low pathogenic avian influenza (LPAI) and highly pathogenic avian influenza (HPAI). HPAI can cause severe illness and death in humans, while LPAI is usually milder.  Read More

Axenfeld anomaly is a rare eye disorder that affects the development of the eye. It is characterized by a thinning of the cornea, a malformation of the iris, and a hole in the iris. It can lead to glaucoma, cataracts, and vision loss.  Read More

Axenfeld-Rieger syndrome is a rare genetic disorder that affects the eyes, teeth, and other parts of the body. It is characterized by abnormalities of the front part of the eye, including the iris, the colored part of the eye, and the cornea, the clear outer layer of the eye. It can also cause dental abnormalities, such as missing or extra teeth, and abnormalities of the heart, kidneys, and other organs.  Read More

Axial mesodermal dysplasia spectrum is a group of rare genetic disorders that affect the development of the axial skeleton, which includes the spine, ribs, and sternum. These disorders are caused by mutations in genes that are involved in the development of the axial skeleton. Symptoms can include short stature, scoliosis, rib anomalies, and chest wall deformities. Treatment typically involves physical therapy, bracing, and surgery.  Read More

Axial spondylometaphyseal dysplasia (SMD) is a rare genetic disorder that affects the bones and joints. It is characterized by short stature, a short neck, and a flattened face. Other features include a short trunk, a narrow chest, and a curved spine. People with SMD may also have joint stiffness, scoliosis, and skeletal abnormalities.  Read More

AXIN2-related attenuated familial adenomatous polyposis (AFAP) is a rare inherited disorder that is caused by mutations in the AXIN2 gene. People with this condition have an increased risk of developing multiple polyps in the colon and rectum, which can lead to colorectal cancer if left untreated. Symptoms of AFAP can include abdominal pain, rectal bleeding, and changes in bowel habits. Treatment typically involves regular colonoscopies to mon  Read More

Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy is a rare neurological disorder characterized by progressive weakness and sensory disturbances in the arms and legs. It is caused by the presence of an abnormal protein called a monoclonal gammopathy, which is an abnormal type of antibody produced by the immune system. This disorder can be caused by a variety of conditions, including multiple myeloma, Waldenström's macrog  Read More

At this time, there is no known cure for Ayme-Gripp syndrome. However, there are medications that can help manage the symptoms of the condition. These include anti-inflammatory medications, anticonvulsants, and muscle relaxants. Additionally, physical therapy and occupational therapy can help improve mobility and reduce pain.  Read More

The azygos continuation of the inferior vena cava is a rare anatomical variant in which the azygos vein connects directly to the inferior vena cava. This connection allows blood to bypass the liver and flow directly from the lower body to the heart.  Read More

B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome (BILA-UGM) is a rare genetic disorder characterized by a combination of immunodeficiency, limb anomalies, and urogenital malformations. It is caused by a mutation in the gene encoding the transcription factor FOXP3, which is involved in the development of the immune system. Symptoms of BILA-UGM include recurrent infections, limb malformations, and urogenital malformations su  Read More

B-cell prolymphocytic leukemia (B-PLL) is a rare type of leukemia that affects B-cells, a type of white blood cell. It is characterized by an overproduction of mature B-cells in the blood and bone marrow. Symptoms of B-PLL include fatigue, fever, night sweats, weight loss, and enlarged lymph nodes. Treatment typically involves chemotherapy and/or radiation therapy.  Read More

B-lymphoblastic leukemia/lymphoma with hyperdiploidy is a type of cancer that affects the B-cells of the immune system. It is characterized by an abnormal increase in the number of chromosomes in the cells, known as hyperdiploidy. This type of cancer is most common in children and is usually treated with chemotherapy and/or radiation therapy.  Read More

B-lymphoblastic leukemia/lymphoma with hypodiploidy is a rare type of cancer that affects the blood and bone marrow. It is a type of acute lymphoblastic leukemia (ALL) that is characterized by an abnormally low number of chromosomes in the cells. This condition is associated with a poor prognosis and is often resistant to chemotherapy. Treatment typically involves a combination of chemotherapy, radiation, and stem cell transplantation.  Read More

B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality is a type of cancer that affects the B-cells of the immune system. It is characterized by the presence of recurrent genetic abnormalities, such as a mutation in the gene that codes for the B-cell receptor. This mutation can lead to uncontrolled growth of B-cells, which can cause the cancer to spread. Treatment for this type of cancer typically involves chemotherapy, radiation  Read More

B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) is a type of cancer that affects the B-cells of the immune system. It is caused by a chromosomal translocation between chromosomes 12 and 21, which results in the fusion of two genes, ETV6 and RUNX1. This fusion gene produces an abnormal protein that causes uncontrolled growth of B-cells, leading to the development of leukemia or lymphoma. Treatment typically involves chemotherapy an  Read More

B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) is a type of cancer that affects the B-cells of the immune system. It is characterized by a chromosomal translocation between chromosomes 1 and 19, which results in a fusion of the TEL and AML1 genes. This fusion gene is associated with a poor prognosis and is often seen in pediatric patients. Treatment typically involves chemotherapy and/or stem cell transplantation.  Read More

B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) is a type of cancer that affects the B-cells of the immune system. It is characterized by a chromosomal translocation between chromosomes 5 and 14, which results in the fusion of two genes, TBL1XR1 and IKZF1. This fusion gene leads to the production of an abnormal protein that causes uncontrolled cell growth and division, leading to the development of cancer.  Read More

B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) is a type of cancer that affects the blood and bone marrow. It is a type of acute lymphoblastic leukemia (ALL) that is caused by a chromosomal translocation between chromosomes 9 and 22. This translocation results in the formation of a fusion gene, known as the Philadelphia chromosome, which produces an abnormal protein that can lead to the uncontrolled growth of white blood cells. Tr  Read More

B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) is a type of cancer that affects the B-cells of the immune system. It is characterized by a chromosomal translocation between chromosome 11 and the variable region of chromosome 22. This translocation results in the fusion of two genes, MLL and AF4, which leads to the production of an abnormal protein that causes uncontrolled cell growth. This type of cancer is most commonly seen in children  Read More

B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (SD-EDS) is a rare genetic disorder caused by mutations in the B3GALT6 gene. It is a type of Ehlers-Danlos syndrome (EDS), a group of disorders that affect the connective tissues that support the skin, bones, blood vessels, and other organs and tissues. People with SD-EDS have joint hypermobility, skin hyperextensibility, and fragile skin that bruises easily. They may also have skeletal  Read More

B4GALT1-CDG is a gene that encodes a protein involved in the biosynthesis of glycolipids. It is located on chromosome 6 and is involved in the formation of the cell membrane.  Read More

B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome (SD-EDS) is a rare genetic disorder caused by mutations in the B4GALT7 gene. It is a type of Ehlers-Danlos syndrome (EDS), a group of disorders that affect the connective tissues that support the skin, bones, blood vessels, and other organs and tissues. People with SD-EDS have joint hypermobility, skin hyperextensibility, and fragile skin that bruises easily. They may also have skeletal  Read More

Babesiosis is a rare, tick-borne disease caused by a microscopic parasite called Babesia. It is similar to malaria in that it is caused by a parasite that infects red blood cells. Symptoms of babesiosis can range from mild to severe and include fever, chills, fatigue, body aches, and anemia. In some cases, the infection can be life-threatening. Treatment typically involves antibiotics and supportive care.  Read More

Froehlich syndrome is a constellation of endocrine abnormalities believed to result from damage to the hypothalamus, a part of the brain where certain functions such as sleep cycles and body temperature are regulated. Froehlich syndrome appears to be acquired while certain other disorders that resemble it, such as Prader-Willi syndrome, are genetic. This syndrome appears to affect males mostly. The more obvious and frequently encou  Read More

Bacterial myositis is an infection of the muscles caused by bacteria. It is a rare but serious condition that can cause severe muscle pain, swelling, and tenderness. It can also lead to muscle weakness and even paralysis. Treatment typically involves antibiotics and supportive care.  Read More

Bacterial susceptibility due to TLR signaling pathway deficiency is a condition in which the body's immune system is unable to respond to bacterial infections due to a defect in the Toll-like receptor (TLR) signaling pathway. This pathway is responsible for recognizing and responding to bacterial and viral infections. When the pathway is defective, the body is unable to mount an effective immune response, leading to increased susceptibility to  Read More

Bacterial toxic-shock syndrome (TSS) is a rare but potentially life-threatening condition caused by a bacterial toxin. It is most commonly caused by the bacteria Staphylococcus aureus, but can also be caused by other types of bacteria. Symptoms of TSS include high fever, rash, low blood pressure, and organ failure. Treatment typically involves antibiotics and supportive care.  Read More

Bainbridge-Ropers syndrome is a rare genetic disorder characterized by intellectual disability, delayed development, and distinctive facial features. It is caused by a mutation in the MED12 gene. Symptoms may include low muscle tone, seizures, and vision and hearing problems.  Read More

Balantidiasis is an infection caused by the parasite Balantidium coli. It is a rare infection that is most commonly found in developing countries, and it is spread through contact with contaminated food or water. Symptoms of balantidiasis include abdominal pain, diarrhea, and fever. In severe cases, the infection can cause ulcers in the intestines and even death. Treatment typically involves antibiotics.  Read More

Balint syndrome is a rare neurological disorder characterized by three primary symptoms: simultanagnosia (inability to perceive more than one object at a time), oculomotor apraxia (inability to move the eyes in a coordinated fashion), and optic ataxia (inability to accurately reach for objects). It is caused by damage to the parietal lobe of the brain.  Read More

Baller-Gerold Syndrome is a rare genetic disorder that affects the development of bones and other tissues. It is caused by a mutation in the RECQL4 gene. Symptoms of the disorder include skeletal abnormalities, facial dysmorphism, intellectual disability, and growth retardation.  Read More

There is no known cure for Balo concentric sclerosis. Treatment focuses on managing symptoms and preventing further damage. Medications used to treat Balo concentric sclerosis include corticosteroids, immunosuppressants, and anticonvulsants. Physical therapy, occupational therapy, and speech therapy may also be recommended to help manage symptoms.  Read More

Balo Disease is a rare and progressive variant of multiple sclerosis. It usually first appears in adulthood, but childhood cases have also been reported. While multiple sclerosis typically is a disease that waxes and wanes, Balo Disease is different in that it tends to be rapidly progressive. Symptoms may include headache, seizures, gradual paralysis, involuntary muscle spasms, and cognitive loss. The alternative names for Balo Disease, concen  Read More

Bamforth-Lazarus syndrome is a rare genetic disorder characterized by a combination of physical and mental disabilities. It is caused by a mutation in the gene that codes for the enzyme dihydropyrimidine dehydrogenase (DPD). Symptoms of the disorder include intellectual disability, seizures, delayed development, and facial abnormalities.  Read More

Bangstad syndrome is a rare genetic disorder characterized by a combination of physical and mental disabilities. It is caused by a mutation in the gene that codes for the enzyme dihydropyrimidine dehydrogenase (DPD). Symptoms of Bangstad syndrome include intellectual disability, seizures, delayed development, and physical abnormalities such as short stature, low muscle tone, and facial dysmorphism.  Read More

Banki syndrome is a rare disorder characterized by the presence of multiple cysts in the pancreas. It is also known as pancreatic cystic hamartoma or pancreatic cystic neoplasm. Symptoms of Banki syndrome may include abdominal pain, nausea, vomiting, weight loss, and jaundice. Treatment typically involves surgical removal of the cysts.  Read More

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare genetic disorder characterized by macrocephaly (an abnormally large head), lipomas (benign fatty tumors), and intestinal hamartomatous polyps. It is caused by a mutation in the PTEN gene, which is responsible for controlling cell growth and division. Other symptoms may include developmental delays, intellectual disability, seizures, and autism spectrum disorder.  Read More

At this time, there is no known cure for Banti's Syndrome. Treatment focuses on managing the symptoms, which may include medications to reduce inflammation, anticoagulants to prevent blood clots, and antibiotics to treat infections.  Read More

BAP1-related tumor predisposition syndrome is an inherited disorder caused by mutations in the BAP1 gene. People with this syndrome have an increased risk of developing certain types of cancer, including mesothelioma, melanoma, and uveal melanoma. They may also be at risk for other types of cancer, including renal cell carcinoma, breast cancer, and ovarian cancer.  Read More

Baraitser-Winter cerebrofrontofacial syndrome (BWS) is a rare genetic disorder characterized by distinctive facial features, intellectual disability, and a variety of other physical and neurological abnormalities. It is caused by a mutation in the PORCN gene, which is responsible for the production of a protein involved in the development of the face, brain, and other organs. Symptoms of BWS can include a wide-set eyes, a broad forehead, a sho  Read More

Barakat Syndrome is a rare genetic disorder that affects the development of the brain, eyes, and other organs. It is caused by a mutation in the gene that codes for the enzyme dihydropyrimidine dehydrogenase (DPD). Symptoms of Barakat Syndrome include intellectual disability, seizures, vision problems, hearing loss, and skeletal abnormalities.  Read More

Bardet-Biedl Syndrome (BBS) is a rare genetic disorder that affects multiple systems of the body. It is characterized by the progressive loss of vision, obesity, extra fingers or toes, kidney abnormalities, and learning disabilities. It is caused by mutations in one of at least 14 different genes. Treatment is focused on managing the symptoms and complications of the disorder.  Read More

Baroreflex failure is a condition in which the baroreflex, a reflex that helps regulate blood pressure, does not work properly. This can lead to a sudden and severe drop in blood pressure, which can cause dizziness, fainting, and even death. Treatment typically involves medications to help regulate blood pressure and lifestyle changes to reduce stress.  Read More

Barth Syndrome is a rare genetic disorder that affects the heart, muscles, and immune system. It is caused by a mutation in the gene that codes for the enzyme tafazzin. Symptoms of Barth Syndrome include cardiomyopathy, skeletal muscle weakness, growth delays, and recurrent infections.  Read More

Bartonellosis is a bacterial infection caused by the bacteria Bartonella. It is also known as Carrion's disease or bartonellosis. Symptoms of bartonellosis can include fever, headache, fatigue, and swollen lymph nodes. In some cases, it can also cause skin lesions, eye inflammation, and neurological symptoms. Treatment typically involves antibiotics.  Read More

Bartsocas-Papas syndrome is a rare genetic disorder characterized by craniofacial abnormalities, skeletal malformations, and intellectual disability. It is caused by a mutation in the PAPB gene. Symptoms may include a distinctive facial appearance, short stature, cleft palate, and heart defects. Treatment is symptomatic and may include physical and occupational therapy, speech therapy, and surgery.  Read More

Bartter Syndrome is a rare inherited disorder that affects the kidneys and causes them to excrete too much salt and water. It is caused by a defect in the kidney's ability to reabsorb salt and water, resulting in low levels of potassium and other electrolytes in the blood. Symptoms of Bartter Syndrome include dehydration, frequent urination, muscle cramps, and growth delays. Treatment typically involves a combination of medications, dietary ch  Read More

Bartter syndrome type 1 is a rare inherited disorder that affects the kidneys and causes them to excrete too much salt and water. It is caused by a mutation in the SLC12A1 gene, which is responsible for the production of a protein that helps regulate the movement of salt and water in and out of cells. Symptoms of Bartter syndrome type 1 include dehydration, low blood pressure, muscle cramps, and frequent urination. Treatment typically involves  Read More

Bartter syndrome type 2 is a rare inherited disorder that affects the kidneys and causes them to excrete too much salt and water. It is caused by a mutation in the SLC12A1 gene, which is responsible for the production of a protein that helps regulate the movement of salt and water in and out of cells. Symptoms of Bartter syndrome type 2 include dehydration, low blood pressure, muscle cramps, and frequent urination. Treatment typically involves  Read More

Bartter syndrome type 3 is a rare inherited disorder that affects the kidneys and causes them to excrete too much salt and water. It is caused by a mutation in the SLC12A1 gene, which is responsible for the production of a protein that helps regulate the movement of salt and water in and out of cells. Symptoms of Bartter syndrome type 3 include dehydration, low blood pressure, muscle cramps, and frequent urination. Treatment typically involves  Read More

Bartter syndrome type 4 is a rare inherited disorder caused by mutations in the SLC12A1 gene. It is characterized by low levels of potassium in the blood, low levels of chloride in the blood, and high levels of bicarbonate in the blood. Symptoms may include muscle weakness, fatigue, cramps, and dehydration. Treatment typically involves dietary changes, medications, and supplements.  Read More

Bartter syndrome type 5 is a rare genetic disorder that affects the kidneys and causes them to excrete too much salt and potassium. It is caused by a mutation in the SLC12A1 gene, which is responsible for the production of a protein that helps regulate the movement of salt and potassium in and out of cells. Symptoms of Bartter syndrome type 5 include dehydration, low blood pressure, muscle cramps, and fatigue. Treatment typically involves a co  Read More

Basal encephalocele is a rare birth defect in which the brain and its covering (meninges) protrude through an opening in the skull. It is caused by a failure of the skull bones to close properly during fetal development. Symptoms may include seizures, developmental delays, and hydrocephalus. Treatment typically involves surgical repair of the defect.  Read More

Basel-Vanagaite-Smirin-Yosef syndrome (BVYS) is a rare genetic disorder characterized by intellectual disability, seizures, and facial dysmorphism. It is caused by a mutation in the gene encoding the protein CACNA1A, which is involved in calcium signaling in the brain. Symptoms of BVYS can include developmental delay, intellectual disability, seizures, facial dysmorphism, and hypotonia.  Read More

Bathing suit ichthyosis is a rare skin disorder characterized by thick, scaly patches of skin that resemble the texture of a bathing suit. It is caused by a genetic mutation that affects the production of proteins in the skin. Symptoms of bathing suit ichthyosis include dry, scaly patches of skin that are usually found on the arms, legs, and torso. The patches may be itchy and uncomfortable, and can be difficult to treat.  Read More

Bazex syndrome is a rare genetic disorder characterized by the premature onset of male pattern baldness, along with other skin abnormalities such as hyperpigmentation, seborrheic dermatitis, and acanthosis nigricans. It is caused by a mutation in the gene responsible for the production of the enzyme 5-alpha reductase, which is responsible for converting testosterone into dihydrotestosterone (DHT).  Read More

Unfortunately, there is no known cure or medications for Bazex-Dupre-Christol syndrome. Treatment is focused on managing the symptoms and complications of the condition. This may include physical therapy, occupational therapy, speech therapy, and other supportive therapies.  Read More

Blue rubber bleb nevus syndrome (BRBNS) is a rare blood vessel (vascular) disorder that affects the skin and internal organs of the body. Multiple distinctive skin lesions are usually characteristic of this disorder and are often present at birth or present during early childhood. Lesions in the gastrointestinal tract frequently become apparent during childhood or early adulthood. The lesions are multifocal venous malformations, resulting from  Read More

Becker nevus syndrome is a rare skin disorder characterized by the presence of a large, dark, hairy patch of skin (known as a Becker nevus) on the back or chest. It is usually accompanied by other physical abnormalities, such as asymmetry of the face, skeletal abnormalities, and/or hormonal imbalances.  Read More

Beckwith-Wiedemann Syndrome (BWS) is a rare genetic disorder that affects the growth and development of a child. It is characterized by overgrowth of certain parts of the body, including the head, abdomen, and extremities. Other features of BWS may include low birth weight, abdominal wall defects, ear creases or pits, and an increased risk of certain types of cancer. Treatment for BWS may include surgery, hormone therapy, and monitoring for th  Read More

Beckwith-Wiedemann syndrome (BWS) is a genetic disorder caused by a microdeletion of the 11p15 region of the genome. It is characterized by overgrowth of certain parts of the body, including the tongue, abdominal organs, and other tissues. It is also associated with an increased risk of certain types of cancer, including Wilms tumor, hepatoblastoma, and adrenocortical carcinoma.  Read More

Beckwith-Wiedemann syndrome (BWS) is a genetic disorder caused by a microduplication of the 11p15 region of the genome. It is characterized by overgrowth of the body, abdominal wall defects, and an increased risk of certain types of cancer. BWS is caused by a duplication of genetic material on chromosome 11, which results in an overproduction of certain proteins and hormones. This can lead to the physical and medical features associated with B  Read More

Beckwith-Wiedemann syndrome (BWS) is a genetic disorder caused by a genetic abnormality in the 11p15 region of the genome. This abnormality can be due to a translocation, inversion, or other structural rearrangement of the 11p15 region. BWS is characterized by overgrowth of certain body parts, including the tongue, abdominal organs, and/or other body parts. It can also cause a variety of other symptoms, including low blood sugar, an increased  Read More

Beckwith-Wiedemann syndrome (BWS) is a rare genetic disorder caused by a mutation in the CDKN1C gene. It is characterized by overgrowth of certain parts of the body, including the tongue, abdominal organs, and other tissues. It can also cause a variety of other symptoms, including low blood sugar, an increased risk of certain types of cancer, and developmental delays.  Read More

Beckwith-Wiedemann syndrome (BWS) is a rare genetic disorder caused by an imprinting defect of the 11p15 region of the genome. It is characterized by overgrowth of certain parts of the body, including the tongue, abdominal organs, and other body parts. It is also associated with an increased risk of certain types of cancer, including Wilms tumor, hepatoblastoma, and adrenocortical carcinoma.  Read More

Beckwith-Wiedemann syndrome (BWS) is a rare genetic disorder caused by a mutation in the NSD1 gene. It is characterized by overgrowth of certain parts of the body, including the tongue, abdominal organs, and/or extremities. Other features of BWS include low birth weight, an increased risk of certain types of cancer, and developmental delays.  Read More

Beckwith-Wiedemann syndrome (BWS) is a rare genetic disorder caused by a genetic abnormality in which a person has two copies of chromosome 11 from their father, instead of one copy from each parent. This is known as paternal uniparental disomy of chromosome 11. BWS is associated with a wide range of physical and developmental abnormalities, including an increased risk of certain types of cancer.  Read More

Beemer-Ertbruggen syndrome is a rare genetic disorder characterized by intellectual disability, facial dysmorphism, and skeletal abnormalities. It is caused by a mutation in the PIGV gene. Symptoms may include delayed development, low muscle tone, seizures, and vision and hearing problems.  Read More

There is no cure for Behcet's Syndrome, but medications can help to reduce symptoms and prevent flares. Common medications used to treat Behcet's Syndrome include corticosteroids, immunosuppressants, and biologic agents. Additionally, lifestyle modifications such as avoiding triggers, eating a healthy diet, and getting regular exercise can help to reduce symptoms.  Read More

Bejel, also known as endemic syphilis, is a chronic, sexually transmitted infection caused by the bacterium Treponema pallidum. It is most commonly found in parts of Africa, the Middle East, and Asia. Symptoms of bejel include skin lesions, fever, and swollen lymph nodes. Treatment typically involves antibiotics.  Read More

Yes, there are treatments available for Bell's Palsy. Treatment typically includes medications such as corticosteroids and antiviral drugs, as well as physical therapy and facial exercises. In some cases, surgery may be recommended.  Read More

Bencze syndrome is a rare genetic disorder characterized by intellectual disability, seizures, and facial abnormalities. It is caused by a mutation in the GNAO1 gene. Symptoms may include delayed development, intellectual disability, seizures, facial abnormalities, and behavioral problems.  Read More

Benign cephalic histiocytosis is a rare skin disorder that is characterized by the presence of multiple, small, yellowish-brown bumps on the skin. These bumps are usually found on the face, scalp, and neck, but can also occur on other parts of the body. The bumps are made up of histiocytes, which are a type of white blood cell. The condition is usually benign and does not cause any symptoms, but it can sometimes be associated with itching or d  Read More

Benign childhood occipital epilepsy, Gastaut type (BCOEG) is a rare form of epilepsy that typically begins in childhood and is characterized by recurrent seizures that originate in the occipital lobe of the brain. These seizures usually consist of visual disturbances such as flashing lights, geometric shapes, or hallucinations. Other symptoms may include confusion, dizziness, and loss of consciousness. BCOEG is usually treated with antiepilept  Read More

Benign childhood occipital epilepsy, Panayiotopoulos type (BCOEP) is a rare form of epilepsy that typically begins in childhood. It is characterized by recurrent seizures that originate in the occipital lobe of the brain and are associated with visual disturbances. The seizures usually last for a few minutes and are not associated with any long-term neurological damage. BCOEP is named after the Greek neurologist, Professor Panayiotopoulos, who  Read More

Benign concentric annular macular dystrophy (BCAMD) is a rare, inherited eye disorder that affects the macula, the part of the retina responsible for central vision. It is characterized by the presence of multiple, concentric rings of yellowish-white deposits in the macula, which can cause blurred or distorted central vision. BCAMD is usually diagnosed in adulthood and is not associated with any other medical conditions. Treatment is typically  Read More

Benign epithelial tumor of salivary glands is a type of non-cancerous tumor that develops in the salivary glands. These tumors are usually slow-growing and do not spread to other parts of the body. They can, however, cause symptoms such as pain, swelling, and difficulty swallowing. Treatment typically involves surgical removal of the tumor.  Read More

Benign familial mesial temporal lobe epilepsy (BFMTLE) is a rare form of epilepsy that is inherited in an autosomal dominant pattern. It is characterized by recurrent seizures that originate in the mesial temporal lobe of the brain. These seizures typically begin in childhood or adolescence and can last for several minutes. Symptoms may include confusion, memory loss, and auras. Treatment typically involves antiepileptic medications and lifest  Read More

Benign familial neonatal epilepsy (BFNE) is a rare genetic disorder that causes seizures in newborns. It is an autosomal dominant disorder, meaning that a child only needs to inherit one copy of the mutated gene from a parent in order to be affected. The seizures usually begin within the first week of life and can last for several minutes. They usually stop by the time the baby is three months old. Treatment typically involves anticonvulsant m  Read More

Benign familial neonatal-infantile seizures (BFNIS) is a rare genetic disorder characterized by recurrent seizures that typically begin in the first few days of life and last until the age of four months. The seizures are usually brief and may involve jerking of the arms and legs, staring, and loss of consciousness. BFNIS is caused by mutations in the SCN2A gene, which is responsible for the production of a protein involved in the transmission  Read More

Benign focal seizures of adolescence (BFSA) is a type of seizure disorder that typically begins in adolescence and is characterized by brief, focal seizures that do not cause any long-term damage. These seizures usually last less than one minute and may involve jerking or twitching of one side of the body, or a feeling of déjà vu. BFSA is considered a benign condition, meaning that it does not cause any long-term neurological damage.  Read More

Benign hereditary chorea is a rare, inherited neurological disorder characterized by involuntary, rapid, jerky movements of the arms, legs, and face. It is caused by a genetic mutation and is usually seen in children between the ages of 3 and 10. Symptoms usually improve with age, and the disorder is not life-threatening.  Read More

Benign idiopathic neonatal seizures (BINS) is a type of seizure disorder that occurs in newborns. It is characterized by brief, recurrent seizures that usually occur within the first week of life and typically resolve within the first few months. BINS is considered a benign condition, meaning it is not associated with any long-term neurological damage or developmental delays.  Read More

Benign infantile focal epilepsy with midline spikes and waves during sleep (BIFEMS) is a rare form of epilepsy that typically begins in infancy and is characterized by brief episodes of focal seizures with midline spikes and waves on EEG during sleep. These seizures usually occur during non-REM sleep and can last from a few seconds to a few minutes. During the seizure, the child may experience jerking movements, eye deviation, and/or altered c  Read More

Benign infantile seizures associated with mild gastroenteritis is a rare condition in which infants experience seizures due to a mild gastrointestinal infection. It is thought to be caused by an imbalance of electrolytes in the body, which can be caused by dehydration or electrolyte imbalances due to vomiting or diarrhea. Treatment typically involves rehydration and electrolyte replacement.  Read More

Benign metanephric tumor is a rare type of kidney tumor that is usually found in children. It is a non-cancerous tumor that is made up of cells that are similar to those found in the normal kidney. These tumors can grow slowly and may cause symptoms such as pain, fever, and blood in the urine. Treatment usually involves surgery to remove the tumor.  Read More

Benign nocturnal alternating hemiplegia of childhood (BNAH) is a rare neurological disorder that is characterized by episodes of temporary paralysis on one side of the body (hemiplegia) that occur during sleep. These episodes usually last for a few minutes to a few hours and can occur multiple times during the night. BNAH is usually diagnosed in children between the ages of 2 and 8 years old.  Read More

Benign occipital epilepsy (BOE) is a rare form of epilepsy that is characterized by recurrent seizures that originate in the occipital lobe of the brain. These seizures typically cause visual disturbances such as flashing lights, zigzag lines, or auras, and may be accompanied by nausea, vomiting, and headaches. BOE is usually diagnosed in childhood and is often outgrown by adulthood. Treatment typically involves antiepileptic medications, alth  Read More

Benign Paroxysmal Positional Vertigo (BPPV) is a type of vertigo that is caused by a problem in the inner ear. It is characterized by brief episodes of dizziness or vertigo that are triggered by certain head movements. Symptoms of BPPV include a spinning sensation, lightheadedness, nausea, and difficulty maintaining balance. Treatment for BPPV typically involves a series of maneuvers that are designed to move the particles in the inner ear tha  Read More

Benign paroxysmal tonic upgaze of childhood with ataxia (BPUT-A) is a rare neurological disorder characterized by episodes of upward eye movements (tonic upgaze) and ataxia (lack of coordination). These episodes usually last for a few seconds to minutes and can occur multiple times a day. During an episode, the affected individual may experience difficulty walking, speaking, and/or swallowing. BPUT-A is usually diagnosed in early childhood and  Read More

Benign paroxysmal torticollis of infancy (BPTI) is a condition that causes an infant to experience sudden, brief episodes of neck muscle spasms, resulting in the head being tilted to one side. These episodes can last anywhere from a few seconds to a few minutes and can occur multiple times a day. BPTI is usually seen in infants between the ages of 3 and 12 months and is more common in boys than girls. Treatment typically involves physical ther  Read More

Benign partial epilepsy of infancy with complex partial seizures (BPE-CPS) is a rare form of epilepsy that typically begins in infancy and is characterized by complex partial seizures. These seizures are characterized by a period of altered consciousness, during which the person may appear confused, stare blankly, or make repetitive movements. The seizures usually last for a few minutes and may be followed by a period of confusion or sleepines  Read More

Benign partial epilepsy with secondarily generalized seizures in infancy (BPE-SGSI) is a rare form of epilepsy that typically begins in infancy and is characterized by focal seizures that can spread to become generalized seizures. It is considered a benign form of epilepsy because it usually resolves by the age of two or three without the need for long-term treatment.  Read More

Benign recurrent intrahepatic cholestasis (BRIC) is a rare disorder of the liver that causes episodes of jaundice (yellowing of the skin and eyes) and itching. It is caused by a blockage of bile flow in the liver, which can lead to a buildup of bile acids in the blood. BRIC is a chronic condition, meaning that it can last for months or years. Treatment typically involves medications to reduce itching and to help the liver function better.  Read More

Benign recurrent intrahepatic cholestasis type 1 (BRIC1) is a rare inherited disorder of the liver that causes episodes of jaundice (yellowing of the skin and eyes) and itching. It is caused by a mutation in the ABCB11 gene, which is responsible for transporting bile acids out of the liver. During episodes of BRIC1, bile acids accumulate in the liver, leading to inflammation and damage. Symptoms usually begin in childhood and can last for week  Read More

Benign recurrent intrahepatic cholestasis type 2 (BRIC2) is a rare inherited disorder of the liver that affects the flow of bile. It is characterized by recurrent episodes of jaundice (yellowing of the skin and eyes), itching, and abdominal pain. BRIC2 is caused by mutations in the ABCB11 gene, which is responsible for the production of a protein that helps transport bile acids out of the liver. Treatment for BRIC2 is typically supportive, and  Read More

Benign Samaritan congenital myopathy is a rare genetic disorder that affects the muscles. It is characterized by muscle weakness, muscle wasting, and joint contractures. It is caused by a mutation in the gene encoding the protein titin. Symptoms usually begin in infancy and can include difficulty walking, delayed motor development, and muscle weakness. Treatment typically involves physical therapy and medications to help manage symptoms.  Read More

Benign schwannoma is a type of tumor that develops from the cells that make up the protective sheath (myelin sheath) around nerve cells. It is a slow-growing, non-cancerous tumor that is usually found in the head, neck, or spine. Symptoms may include pain, numbness, or weakness in the affected area. Treatment typically involves surgical removal of the tumor.  Read More

Benign tumor of the fallopian tubes is a non-cancerous growth that develops in the fallopian tubes. These tumors are usually small and do not cause any symptoms. However, if they grow large enough, they can cause pain, bleeding, and other symptoms. Treatment for benign tumors of the fallopian tubes usually involves surgical removal.  Read More

BENTA disease is a rare genetic disorder that affects the nervous system. It is caused by a mutation in the BENTA gene, which is responsible for producing a protein that helps regulate the development of the nervous system. Symptoms of BENTA disease include intellectual disability, seizures, and movement disorders.  Read More

Bernard-Soulier Syndrome (BSS) is a rare inherited disorder that affects the blood's ability to clot. It is caused by a deficiency of a protein called glycoprotein Ib-IX-V, which is found on the surface of platelets. People with BSS have a decreased number of platelets, which can lead to excessive bleeding. Symptoms may include easy bruising, nosebleeds, and prolonged bleeding from cuts. Treatment typically involves medications to help the blo  Read More

Berylliosis is a type of lung disease caused by inhaling dust or fumes containing beryllium, a metal found in certain rocks, minerals, and ores. Symptoms of berylliosis include shortness of breath, chest tightness, coughing, and fatigue. In severe cases, berylliosis can cause permanent lung damage and scarring. Treatment typically involves avoiding further exposure to beryllium and taking medications to reduce inflammation and other symptoms.  Read More

Best Disease, also known as vitelliform macular dystrophy, is a rare genetic disorder that affects the eyes. It is a form of macular degeneration that causes a yellowish spot to form in the center of the retina, resulting in a loss of central vision. It is caused by a mutation in the BEST1 gene, which is responsible for producing a protein that helps maintain the health of the retina.  Read More

Best Vitelliform Macular Dystrophy (BVMD) is a rare, inherited eye disorder that affects the macula, the part of the eye responsible for central vision. It is caused by a mutation in the BEST1 gene, which is responsible for producing a protein that helps maintain the health of the macula. Symptoms of BVMD include a yellowish spot in the center of the macula, blurred vision, and difficulty reading or recognizing faces. Treatment for BVMD is lim  Read More

Beta thalassemia is an inherited blood disorder that affects the production of hemoglobin, the protein in red blood cells that carries oxygen throughout the body. People with beta thalassemia have reduced levels of hemoglobin, which can lead to anemia and other health problems. Beta thalassemia is caused by mutations in the HBB gene, which provides instructions for making the beta globin protein, a component of hemoglobin.  Read More

Beta-ketothiolase deficiency is an inherited disorder that affects the body's ability to break down certain proteins and fats. It is caused by a deficiency of the enzyme beta-ketothiolase, which is responsible for breaking down certain fatty acids and amino acids. Symptoms of this disorder can include vomiting, poor feeding, lethargy, seizures, and developmental delays. Treatment typically involves a combination of dietary changes, medications  Read More

Beta-mannosidosis is a rare genetic disorder caused by a deficiency of the enzyme beta-mannosidase. This enzyme is responsible for breaking down certain complex sugars in the body. When the enzyme is deficient, these sugars accumulate in the body and cause a variety of symptoms, including skeletal abnormalities, hearing loss, vision problems, and intellectual disability.  Read More

Beta-mercaptolactate cysteine disulfiduria (BCD) is a rare genetic disorder caused by a deficiency of the enzyme beta-mercaptolactate cysteine disulfide (BCD). This enzyme is responsible for breaking down the amino acid cysteine, which is essential for normal growth and development. People with BCD have an accumulation of cysteine in their bodies, which can lead to a variety of health problems, including seizures, developmental delays, and int  Read More

Beta-propeller protein-associated neurodegeneration (BPAN) is a rare, inherited neurodegenerative disorder caused by mutations in the WDR45 gene. It is characterized by progressive intellectual disability, seizures, movement disorders, and other neurological symptoms. BPAN is a form of X-linked intellectual disability, meaning it is caused by a mutation on the X chromosome.  Read More

Beta-thalassemia is an inherited blood disorder that affects the production of hemoglobin, the protein in red blood cells that carries oxygen throughout the body. People with beta-thalassemia have reduced or absent production of hemoglobin, which can lead to anemia, fatigue, and other health problems.  Read More

Beta-thalassemia intermedia is a type of thalassemia, a genetic blood disorder that affects the production of hemoglobin, the protein in red blood cells that carries oxygen throughout the body. People with beta-thalassemia intermedia have fewer symptoms than those with the more severe form of the disorder, beta-thalassemia major. Symptoms of beta-thalassemia intermedia may include mild anemia, fatigue, and jaundice. Treatment may include regul  Read More

Beta-thalassemia major is a genetic blood disorder that affects the production of hemoglobin, the protein in red blood cells that carries oxygen throughout the body. People with this condition have an abnormal form of hemoglobin, which leads to a shortage of red blood cells and severe anemia. Symptoms of beta-thalassemia major include fatigue, pale skin, slow growth, and bone deformities. Treatment typically involves regular blood transfusions  Read More

Beta-thalassemia-X-linked thrombocytopenia syndrome is a rare inherited disorder that affects the production of red blood cells and platelets. It is caused by a mutation in the gene that codes for the beta-globin protein, which is part of hemoglobin. People with this disorder have anemia, low platelet counts, and an increased risk of bleeding. They may also have other symptoms, such as fatigue, jaundice, and bone deformities. Treatment typical  Read More

Beta-ureidopropionase deficiency is a rare genetic disorder caused by a deficiency of the enzyme beta-ureidopropionase. This enzyme is involved in the breakdown of certain amino acids, and when it is deficient, these amino acids accumulate in the body, leading to a variety of symptoms. Symptoms of this disorder can include intellectual disability, seizures, movement disorders, and behavioral problems.  Read More

Bethlem myopathy is a rare, inherited disorder that affects the muscles. It is characterized by muscle weakness, joint contractures, and a distinctive pattern of skin changes. It is caused by mutations in the COL6A1 gene, which is responsible for producing a protein called collagen type VI. Symptoms usually begin in childhood and can range from mild to severe. Treatment typically involves physical therapy, occupational therapy, and medications  Read More

BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy (SMA) is a rare genetic disorder caused by mutations in the BICD2 gene. It is characterized by progressive muscle weakness and wasting, primarily affecting the muscles of the arms and legs. Symptoms usually begin in early childhood and can range from mild to severe. Treatment is supportive and may include physical therapy, occupational therapy, and medications to  Read More

Bicervical bicornuate uterus and blind hemivagina is a rare congenital malformation of the female reproductive system. It is characterized by a uterus that is divided into two parts, with two cervices, and a blind hemivagina, which is a half-formed vagina that does not connect to the uterus. This condition can cause infertility, recurrent miscarriages, and other complications. Treatment typically involves surgery to correct the malformation an  Read More

Bicervical bicornuate uterus with patent cervix and vagina is a type of congenital uterine anomaly in which the uterus is divided into two parts, each with its own cervix and vagina. This condition is relatively rare, occurring in about 1 in 1,000 pregnancies. It can cause infertility, recurrent miscarriages, and preterm labor. Treatment typically involves surgery to correct the uterine anomaly.  Read More

Bickerstaff brainstem encephalitis (BBE) is a rare neurological disorder characterized by inflammation of the brainstem. Symptoms of BBE include ataxia, ophthalmoplegia, facial palsy, and altered consciousness. It is thought to be an autoimmune disorder, and is often associated with other autoimmune diseases such as Guillain-Barré syndrome. Treatment typically involves immunosuppressive medications and supportive care.  Read More

Biemond syndrome type 2 is a rare genetic disorder characterized by a combination of physical and neurological abnormalities. It is caused by a mutation in the PEX1 gene, which is responsible for the production of the enzyme peroxisomal biogenesis factor 1. Symptoms of Biemond syndrome type 2 include intellectual disability, seizures, vision and hearing loss, and skeletal abnormalities.  Read More

Bietti crystalline dystrophy is a rare, inherited disorder that affects the eyes. It is characterized by the presence of yellowish-white crystals in the retina and choroid of the eye, which can lead to progressive vision loss. Other symptoms may include night blindness, decreased peripheral vision, and sensitivity to light. There is currently no cure for Bietti crystalline dystrophy, but treatments are available to help manage the symptoms.  Read More

Bifid nose is a rare congenital deformity in which the nose is split into two parts, usually along the bridge. It is caused by a failure of the nasal bones to fuse together during fetal development. It is usually accompanied by other facial deformities, such as cleft lip and palate. Treatment for bifid nose usually involves reconstructive surgery to correct the deformity.  Read More

Bifid uvula is a condition in which the uvula (the small, fleshy tissue that hangs down from the back of the throat) is split into two parts. It is a relatively common condition, occurring in about 4% of the population. It is usually harmless and does not require treatment, although it can sometimes cause difficulty with swallowing or speaking.  Read More

Bifunctional enzyme deficiency is a rare inherited disorder caused by a deficiency of two enzymes, 3-methylglutaconic aciduria type III (3-MGA) and 3-methylglutaconyl-CoA hydratase (3-MGH). This deficiency affects the body's ability to break down certain fatty acids and amino acids, leading to a buildup of toxic substances in the body. Symptoms of bifunctional enzyme deficiency can include seizures, developmental delays, and movement disorders  Read More

Bilateral acute depigmentation of the iris is a rare condition in which the iris of both eyes loses its pigmentation. It is usually caused by an autoimmune disorder, such as systemic lupus erythematosus, or by certain medications. Symptoms may include a decrease in vision, light sensitivity, and a grayish-white color in the iris. Treatment may include topical steroids, immunosuppressants, or laser therapy.  Read More

Bilateral frontal polymicrogyria is a rare neurological disorder that affects the development of the brain. It is characterized by an abnormal pattern of small, shallow folds in the frontal lobes of the brain. This condition can cause a variety of neurological symptoms, including seizures, intellectual disability, and movement disorders.  Read More

Bilateral frontoparietal polymicrogyria is a rare neurological disorder that affects the development of the brain. It is characterized by an abnormal pattern of small, irregular folds in the outer layer of the brain (the cerebral cortex). This disorder can cause a variety of neurological problems, including seizures, intellectual disability, and movement disorders.  Read More

Bilateral generalized polymicrogyria (BGP) is a neurological disorder characterized by abnormal development of the brain's cortex. It is characterized by an excessive number of small folds in the brain's outer layer, the cerebral cortex. This can lead to a variety of neurological symptoms, including seizures, developmental delays, and intellectual disability. BGP is a rare disorder, and its cause is unknown. Treatment typically involves medica  Read More

Bilateral massive adrenal hemorrhage is a rare medical condition in which there is bleeding in both of the adrenal glands. This condition can be caused by trauma, infection, or certain medications. Symptoms may include abdominal pain, nausea, vomiting, and low blood pressure. Treatment typically involves supportive care and medications to control symptoms. In some cases, surgery may be necessary to stop the bleeding.  Read More

Bilateral microtia-deafness-cleft palate syndrome is a rare genetic disorder characterized by the presence of two small ears (microtia), hearing loss, and a cleft palate. It is caused by a mutation in the GJB2 gene, which is responsible for the production of a protein that helps form the outer ear and inner ear structures. The syndrome is usually diagnosed at birth and can cause a variety of physical and developmental issues. Treatment typical  Read More

Bilateral multicystic dysplastic kidney (BMCK) is a condition in which both kidneys are replaced by multiple cysts. It is a congenital disorder that is present at birth and is caused by abnormal development of the kidneys in the womb. It is the most common cause of kidney failure in infants and can lead to long-term health problems. Symptoms may include high blood pressure, poor growth, and urinary tract infections. Treatment may include medic  Read More

Bilateral parasagittal parieto-occipital polymicrogyria (BPPOP) is a rare neurological disorder characterized by abnormal development of the brain's cortex. It is characterized by multiple small, irregularly shaped gyri (folds) in the parietal and occipital lobes of the brain. This disorder can cause a variety of neurological symptoms, including seizures, developmental delays, and intellectual disability.  Read More

Bilateral perisylvian polymicrogyria (BPP) is a rare neurological disorder characterized by abnormal development of the brain's outer layer (cortex) in the area around the Sylvian fissure, which is located on the left and right sides of the brain. This disorder is associated with a wide range of neurological and developmental problems, including seizures, intellectual disability, language delays, and motor impairments.  Read More

Bile acid CoA ligase deficiency is a rare genetic disorder that affects the body's ability to process bile acids. It is caused by a mutation in the gene that codes for the enzyme bile acid CoA ligase. This enzyme is responsible for the formation of bile acids from cholesterol. Defective amidation is a condition in which the body is unable to properly convert bile acids into their active form. This can lead to a buildup of bile acids in the bod  Read More

Bile acid synthesis disorders are a group of rare inherited metabolic disorders that affect the body's ability to produce bile acids. Bile acids are essential for the digestion and absorption of fats and fat-soluble vitamins. Without them, the body cannot properly digest and absorb these nutrients, leading to a variety of symptoms, including poor growth, fatty stools, and liver disease. Treatment typically involves dietary changes and suppleme  Read More

Biliary atresia is a rare, life-threatening condition that affects the liver and bile ducts in infants. It occurs when the bile ducts, which carry bile from the liver to the gallbladder, are either absent or blocked. This causes bile to build up in the liver, leading to liver damage and cirrhosis. Treatment typically involves surgery to create a new pathway for bile to flow from the liver to the small intestine.  Read More

Biliary atresia with splenic malformation syndrome is a rare congenital disorder characterized by the absence or underdevelopment of the bile ducts, which are responsible for carrying bile from the liver to the small intestine. It is also associated with malformations of the spleen, including hypoplasia (underdevelopment) or aplasia (absence). Symptoms of this condition include jaundice, dark urine, pale stools, and abdominal swelling. Treatme  Read More

Binder Type Nasomaxillary Dysplasia is a rare genetic disorder characterized by facial abnormalities, including a flattened midface, a short nose, and a small lower jaw. It is caused by a mutation in the BMP4 gene. Symptoms may also include hearing loss, cleft palate, and skeletal abnormalities. Treatment typically involves surgery to correct the facial deformities.  Read More

Binswanger's disease (BD), also called subcortical vascular dementia, is a type of dementia caused by widespread, microscopic areas of damage to the deep layers of white matter in the brain. The damage is the result of the thickening and narrowing (atherosclerosis) of arteries that feed the subcortical areas of the brain. Atherosclerosis (commonly known as "hardening of the arteries") is a systemic process that affects blood vessels throughout  Read More

Biotin-thiamine-responsive basal ganglia disease is a rare genetic disorder that affects the brain and nervous system. It is caused by a mutation in the SLC19A3 gene, which is responsible for the production of a protein called biotinidase. This protein is essential for the metabolism of biotin, a vitamin that is important for normal brain development. Symptoms of this disorder include seizures, developmental delay, movement disorders, and inte  Read More

Biotinidase deficiency is an inherited disorder caused by a deficiency of the enzyme biotinidase. This enzyme is responsible for recycling biotin, a vitamin that is essential for normal growth and development. Without enough biotin, the body cannot properly use fats, carbohydrates, and proteins. Symptoms of biotinidase deficiency can include skin rash, hair loss, seizures, developmental delays, and vision problems. Treatment typically involves  Read More

Bipartite talus is a type of talus slope that is composed of two distinct layers of rock. The upper layer is typically composed of larger, more angular rocks, while the lower layer is composed of smaller, more rounded rocks. This type of talus slope is often found in areas where two different rock types have been exposed to erosion.  Read More

Birdshot chorioretinopathy (BCR) is a rare, chronic, inflammatory eye disease that affects the retina and choroid. It is characterized by multiple, small, white lesions in the retina and choroid, which can lead to vision loss. It is most commonly seen in people of Northern European descent, and is usually diagnosed in people between the ages of 30 and 50. Treatment typically involves immunosuppressive medications, laser therapy, and/or surgery  Read More

There is no cure for Birt-Hogg-Dube Syndrome, but there are medications that can help manage the symptoms. These include medications to reduce the risk of kidney cancer, such as angiotensin-converting enzyme (ACE) inhibitors, angiotensin receptor blockers (ARBs), and statins. Other medications, such as diuretics, can help reduce the risk of kidney stones. Additionally, regular monitoring of the kidneys is recommended to detect any changes in t  Read More

Birt-Hogg-Dube Syndrome (BHDS) is a rare genetic disorder that is characterized by the growth of noncancerous (benign) tumors on the skin, as well as an increased risk of developing kidney cancer. It is caused by a mutation in the FLCN gene, which is responsible for producing a protein that helps regulate cell growth. People with BHDS may also experience other symptoms, such as cysts on the kidneys, lung cysts, and an increased risk of develop  Read More

At this time, there is no known cure or medications for Bjornstad Syndrome. Treatment is focused on managing the symptoms and providing supportive care. This may include physical therapy, occupational therapy, speech therapy, and other interventions to help improve quality of life.  Read More

Bladder exstrophy is a rare birth defect in which the bladder is abnormally exposed on the outside of the body. It is caused by a failure of the abdominal wall to close properly during fetal development. The bladder is usually malformed and the urethra may be split in two. Other associated abnormalities may include a split pubic bone, a short penis, and a wide gap between the rectum and the bladder. Treatment typically involves reconstructive  Read More

Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex (BEEC) is a rare congenital disorder that affects the development of the urinary and reproductive systems. It is characterized by the abnormal development of the bladder, urethra, and genitalia. The bladder is abnormally exposed on the outside of the body, and the urethra may be open on the underside of the penis or the perineum. The genitalia may be incompletely formed or fused together.  Read More

A Blake pouch cyst is a type of cyst that develops in the pouch of Douglas, which is a small pouch located between the rectum and the uterus in women. It is usually filled with fluid and can cause pain and discomfort. It is usually benign and can be treated with antibiotics or surgery.  Read More

Blastomycosis is a fungal infection caused by the fungus Blastomyces dermatitidis. It is found in soil and decaying wood in certain parts of the United States, Canada, and Africa. Symptoms of blastomycosis can include fever, chest pain, coughing, and shortness of breath. Treatment typically involves antifungal medications.  Read More

Blau syndrome is a rare, inherited disorder characterized by a combination of symptoms including chronic granulomatous inflammation of the skin, eyes, and joints, as well as recurrent fever and lymphadenopathy. It is caused by mutations in the NOD2 gene, which is involved in the body's immune response.  Read More

Bleeding diathesis due to a collagen receptor defect is a condition in which the body is unable to properly recognize and respond to collagen, a protein found in the skin, bones, and other connective tissues. This can lead to excessive bleeding and bruising, as well as an increased risk of developing blood clots. Treatment typically involves medications to help control the bleeding and clotting, as well as lifestyle changes to reduce the risk  Read More

Bleeding diathesis due to glycoprotein VI deficiency is a rare inherited disorder that affects the body's ability to form blood clots. It is caused by a deficiency of glycoprotein VI, a protein found on the surface of platelets that is essential for normal clotting. People with this disorder experience excessive bleeding from minor cuts and bruises, as well as nosebleeds, heavy menstrual bleeding, and prolonged bleeding after surgery or dental  Read More

Bleeding diathesis due to integrin alpha2-beta1 deficiency is a rare inherited disorder characterized by a deficiency of the integrin alpha2-beta1 protein, which is involved in the formation of blood clots. People with this disorder have an increased risk of bleeding, which can range from mild to severe. Symptoms may include easy bruising, prolonged bleeding from cuts or injuries, and excessive bleeding during or after surgery. Treatment typic  Read More

Bleeding diathesis due to thromboxane synthesis deficiency is a rare inherited disorder that affects the body's ability to form blood clots. It is caused by a deficiency in the enzyme thromboxane synthase, which is responsible for the production of thromboxane, a substance that helps to regulate the formation of blood clots. People with this disorder are at an increased risk of bleeding and bruising, and may experience prolonged bleeding after  Read More

CalDAG-GEFI deficiency is a rare bleeding disorder caused by a mutation in the CalDAG-GEFI gene. It is characterized by a deficiency in the production of calcium-dependent activator protein for granule-mediated exocytosis (CalDAG-GEFI). This protein is essential for the release of clotting factors from platelets, which are necessary for normal blood clotting. People with this disorder may experience prolonged bleeding after minor injuries or s  Read More

Bleeding disorder due to P2Y12 defect is a rare inherited disorder caused by a mutation in the P2Y12 gene. This mutation results in a deficiency of the P2Y12 enzyme, which is involved in platelet activation and aggregation. People with this disorder have an increased risk of bleeding, including spontaneous bleeding episodes, prolonged bleeding after surgery or trauma, and excessive bleeding during menstruation.  Read More

Bleeding disorder in hemophilia A carriers is a condition in which the body does not produce enough of the clotting factor VIII, which is necessary for normal blood clotting. People with this condition are at risk for excessive bleeding, even from minor injuries. Treatment typically involves replacing the missing clotting factor with a medication or infusion.  Read More

Bleeding disorder in hemophilia B carriers is a condition in which a person has a deficiency of clotting factor IX, which is necessary for normal blood clotting. This can lead to excessive bleeding, even from minor cuts or injuries. People with hemophilia B may experience prolonged bleeding after surgery, dental procedures, or trauma. They may also experience spontaneous bleeding into joints and muscles, which can cause pain and swelling. Trea  Read More

Blepharo-cheilo-odontic syndrome (BCOS) is a rare genetic disorder characterized by abnormalities of the eyelids, lips, and teeth. Symptoms may include drooping of the upper eyelids, thickening of the lower eyelids, cleft lip and/or palate, and malformed or missing teeth. Other features may include a wide nasal bridge, low-set ears, and a small chin. BCOS is caused by a mutation in the TP63 gene and is inherited in an autosomal dominant patter  Read More

Blepharonasofacial malformation syndrome is a rare genetic disorder characterized by facial malformations, including wide-set eyes, a broad nasal bridge, and a wide mouth. Other features may include cleft lip and/or palate, low-set ears, and a small chin. Affected individuals may also have developmental delays, intellectual disability, and/or hearing loss.  Read More

Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome (BPES) is a rare genetic disorder that affects the development of the eyelids. It is characterized by a narrowing of the eyelids (blepharophimosis), drooping of the upper eyelids (ptosis), and an inward folding of the lower eyelid (epicanthus inversus). People with BPES may also have other eye abnormalities, such as strabismus (crossed eyes) and/or refractive errors (nearsightedness or far  Read More

Blepharophimosis-intellectual disability syndrome, MKB type (BP-ID-MKB) is a rare genetic disorder characterized by blepharophimosis (a condition in which the eyelids are abnormally small and close tightly over the eyes), intellectual disability, and other physical abnormalities. Affected individuals may also have distinctive facial features, skeletal abnormalities, and/or heart defects. BP-ID-MKB is caused by mutations in the MKB gene and is  Read More

Blepharophimosis-intellectual disability syndrome, Ohdo type is a rare genetic disorder characterized by a distinctive facial appearance, intellectual disability, and other physical abnormalities. People with this condition have a small head size (microcephaly), a short, upturned nose, and small, widely spaced eyes (blepharophimosis). They may also have a small jaw (micrognathia), a high-arched palate, and/or hearing loss. Other features may i  Read More

Blepharophimosis-intellectual disability syndrome, SBBYS type (also known as SBBYS syndrome) is a rare genetic disorder characterized by blepharophimosis (a condition in which the eyelids are abnormally small and close tightly), intellectual disability, and a variety of other physical features. Affected individuals may have a small head, a short neck, a broad nasal bridge, a wide mouth, and a prominent chin. They may also have skeletal abnorma  Read More

Blepharophimosis-intellectual disability syndrome, Verloes type (BPID-V) is a rare genetic disorder characterized by blepharophimosis (a condition in which the eyelids are abnormally small and close together), intellectual disability, and other physical abnormalities. Affected individuals may have a small head, a short neck, and a broad nasal bridge. They may also have a cleft lip and/or palate, and/or other facial abnormalities. Other feature  Read More

Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome is a rare genetic disorder characterized by blepharophimosis (a condition in which the eyelids are abnormally small and close tightly), intellectual disability, and genitopatellar syndrome (a condition characterized by genital abnormalities, skeletal malformations, and kidney problems). Other features may include short stature, hearing loss, and vision problems.  Read More

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare genetic disorder characterized by abnormal development of the eyelids. It is characterized by blepharophimosis (narrowing of the eyelids), ptosis (drooping of the upper eyelids), and epicanthus inversus (inward folding of the inner corner of the eyelids). Other features may include a broad nasal bridge, a flat midface, and a short philtrum. BPES is caused by mutations in the  Read More

Blepharophimosis-ptosis-epicanthus inversus syndrome plus (BPES+) is a rare genetic disorder characterized by blepharophimosis (narrowing of the eyelids), ptosis (drooping of the upper eyelids), epicanthus inversus (inward folding of the inner corner of the eyelids), and additional features such as cleft lip/palate, hearing loss, and/or developmental delay. It is caused by a mutation in the FOXL2 gene.  Read More

Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 (BPES type 1) is a rare genetic disorder characterized by abnormal development of the eyelids, including blepharophimosis (narrowing of the eyelids), ptosis (drooping of the upper eyelids), and epicanthus inversus (inward folding of the inner corner of the eyelids). It is caused by mutations in the FOXL2 gene. Symptoms may include drooping of the upper eyelids, narrowing of the eyelid  Read More

Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 (BPES type 2) is a rare genetic disorder characterized by abnormal development of the eyelids, including blepharophimosis (narrowing of the eyelids), ptosis (drooping of the upper eyelids), and epicanthus inversus (inward folding of the inner corner of the eyelids). It is caused by mutations in the FOXL2 gene. Symptoms may include drooping of the upper eyelids, narrowing of the eyelid  Read More

Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome (BPES) is a rare genetic disorder characterized by abnormal development of the eyelids (blepharophimosis), drooping of the upper eyelids (ptosis), inward turning of the eyes (esotropia), webbing of the fingers and toes (syndactyly), and short stature. It is caused by a mutation in the FOXL2 gene. Symptoms vary from person to person, but may include vision problems, hearing los  Read More

Blepharoptosis-myopia-ectopia lentis syndrome is a rare genetic disorder characterized by drooping of the upper eyelids (blepharoptosis), nearsightedness (myopia), and displacement of the lens of the eye (ectopia lentis). It is caused by mutations in the FBN1 gene, which is responsible for producing the protein fibrillin-1. Symptoms of the disorder can include vision problems, drooping of the eyelids, and a dislocated lens. Treatment typically  Read More

Benign essential blepharospasm (BEB) is a rare neurological disorder in which affected individuals experience involuntary muscle spasms and contractions of the muscles around the eyes. These spasms come and go (intermittent). Symptoms may begin as eye twitching, blinking and/or irritation. Eventually, BEB causes involuntary closure of the eyes. The exact cause of BEB is unknown. The disorder is one of a group of disorders collectively known as  Read More

Blepharospasm-oromandibular dystonia syndrome is a rare neurological disorder characterized by involuntary muscle spasms in the face, jaw, and mouth. Symptoms may include excessive blinking, involuntary movements of the jaw, and difficulty speaking or swallowing. The cause of the disorder is unknown, but it is believed to be related to a dysfunction of the basal ganglia in the brain. Treatment typically involves medications, botulinum toxin in  Read More

Blindness-scoliosis-arachnodactyly syndrome (BSAS) is a rare genetic disorder characterized by congenital blindness, scoliosis, and arachnodactyly (abnormally long and thin fingers and toes). It is caused by a mutation in the PAX6 gene, which is responsible for the development of the eyes and other structures. Symptoms of BSAS can include vision loss, scoliosis, and arachnodactyly. Other associated features may include hearing loss, intellectu  Read More

Blomstrand lethal chondrodysplasia is a rare genetic disorder that affects the development of bones and cartilage. It is characterized by short stature, joint stiffness, and skeletal abnormalities. Affected individuals typically have a short trunk, short limbs, and a narrow chest. Other features may include a small head, a flattened face, and a cleft palate. The disorder is caused by mutations in the COL2A1 gene and is inherited in an autosoma  Read More

Bloom Syndrome is a rare genetic disorder that is characterized by short stature, a red facial rash, and increased risk of developing certain types of cancer. It is caused by a mutation in the BLM gene, which is responsible for producing a protein that helps to maintain the stability of chromosomes. People with Bloom Syndrome are also at an increased risk of developing diabetes, heart problems, and other health issues.  Read More

Bloom Syndrome (Congenital Telangiectatic Erythema) is a rare genetic disorder that affects the skin, immune system, and other organs. It is characterized by a distinctive facial appearance, short stature, sun sensitivity, and an increased risk of certain cancers. People with Bloom Syndrome have a higher risk of developing leukemia, lymphoma, and other cancers. They may also have a weakened immune system, making them more susceptible to infect  Read More

Blount disease is a growth disorder that affects the bones in the lower legs. It is caused by abnormal growth of the shinbone (tibia) and is most common in children between the ages of 2 and 5. It can cause bowing of the legs, pain, and difficulty walking. Treatment typically involves bracing and physical therapy. In severe cases, surgery may be necessary.  Read More

Blue cone monochromatism is a rare form of color blindness caused by a mutation in the gene that controls the production of blue cone photopigment. People with this condition have difficulty distinguishing between colors, and they may have difficulty seeing in dim light. They may also have difficulty distinguishing between shades of blue and green.  Read More

Blue Diaper Syndrome is a term used to describe the phenomenon of children of wealthy or famous parents who rebel against their privileged upbringing. It is often used to describe the behavior of children who reject their parents' values and lifestyle, instead opting for a more rebellious and unconventional lifestyle.  Read More

Blue rubber bleb nevus is a rare vascular disorder characterized by multiple blue-colored, raised lesions on the skin. These lesions are caused by dilated, thin-walled veins that are filled with blood. The lesions can occur anywhere on the body, but are most commonly found on the trunk, arms, and legs. They are usually painless and do not cause any other symptoms.  Read More

Blue Rubber Bleb Nevus syndrome (BRBNS) is a rare disorder characterized by multiple, blue-colored, rubbery, vascular lesions (blebs) on the skin and mucous membranes. These lesions can occur anywhere on the body, but are most commonly found on the face, neck, and upper chest. BRBNS is a congenital disorder, meaning it is present at birth. It is also known as blueberry muffin syndrome.  Read More

BNAR syndrome is a rare genetic disorder characterized by a combination of neurological and physical abnormalities. It is caused by a mutation in the BNAR gene, which is responsible for the production of a protein called BNAR. Symptoms of BNAR syndrome include intellectual disability, seizures, hypotonia, facial dysmorphism, and skeletal abnormalities.  Read More

Bockenheimer syndrome is a rare genetic disorder characterized by a combination of physical and mental disabilities. It is caused by a mutation in the gene that codes for the enzyme dihydropyrimidine dehydrogenase (DPD). Symptoms of Bockenheimer syndrome include intellectual disability, seizures, delayed development, and physical abnormalities such as short stature, joint contractures, and facial dysmorphism. There is currently no cure for Boc  Read More

Body integrity dysphoria (BID) is a psychological disorder characterized by a strong desire to have a healthy limb or other body part removed. People with BID experience distress due to a mismatch between their body and their mental image of themselves. This distress can lead to depression, anxiety, and suicidal thoughts. Treatment for BID typically involves psychotherapy, medications, and lifestyle changes.  Read More

Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a rare condition in which the body's ability to clot blood is impaired due to a deficiency of certain proteins that are dependent on vitamin K. This can lead to excessive skin laxity, which is a condition in which the skin becomes overly loose and stretchy. Symptoms of this condition may include easy bruising, bleeding gums, and nosebleeds. Treatment typically in  Read More

Bohring-Opitz Syndrome (BOS) is a rare genetic disorder that affects the development of the brain, spinal cord, and other organs. It is characterized by severe intellectual disability, seizures, and physical abnormalities. Affected individuals may also have distinctive facial features, including a broad forehead, wide-set eyes, and a small chin. Other features may include feeding difficulties, poor muscle tone, and joint contractures. The exac  Read More

Bolivian hemorrhagic fever (BHF) is a rare and potentially fatal viral disease caused by the Machupo virus, which is a member of the Arenaviridae family. It is found in Bolivia and parts of Paraguay and is spread by contact with infected rodents, their urine, or their droppings. Symptoms of BHF include fever, headache, muscle pain, nausea, vomiting, and bleeding from the nose, mouth, and other body parts. In severe cases, the virus can cause s  Read More

Bone dysplasia, lethal Holmgren type is a rare genetic disorder characterized by skeletal abnormalities, including short stature, abnormal bone growth, and joint deformities. It is caused by a mutation in the COL2A1 gene, which is responsible for the production of type II collagen, a protein that helps form and maintain the structure of bones and other connective tissues. This disorder is usually fatal in infancy or early childhood.  Read More

Bonnemann-Meinecke-Reich Syndrome (BMRS) is a rare genetic disorder characterized by a combination of physical and neurological abnormalities. It is caused by a mutation in the gene encoding the protein filamin A (FLNA). Symptoms of BMRS include intellectual disability, seizures, hypotonia, facial dysmorphism, and skeletal abnormalities.  Read More

Boomerang dysplasia is a rare genetic disorder that affects the development of bones and joints. It is characterized by short stature, joint laxity, and skeletal abnormalities. The most common skeletal abnormalities include shortening of the long bones, abnormal curvature of the spine, and malformation of the hip and knee joints. Other features may include joint contractures, scoliosis, and facial abnormalities.  Read More

BOR syndrome, also known as Brachial Plexus Birth Palsy, is a condition that occurs when the nerves of the brachial plexus are damaged during childbirth. This can cause weakness or paralysis of the arm, shoulder, and hand on the affected side. Symptoms may include decreased movement of the arm, decreased sensation in the arm, and decreased grip strength. Treatment may include physical therapy, occupational therapy, and surgery.  Read More

Borderline epithelial tumor of ovary is a type of ovarian tumor that is not cancerous, but has some features of cancer. It is also known as a low malignant potential tumor. These tumors are usually found in women between the ages of 30 and 50 and are usually benign. Symptoms may include abdominal pain, bloating, and irregular menstrual cycles. Treatment may include surgery to remove the tumor, as well as chemotherapy and radiation therapy.  Read More

Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare genetic disorder characterized by intellectual disability, delayed development, and distinctive facial features. It is caused by a mutation in the PHF6 gene, which is located on the X chromosome. Symptoms may include delayed speech and language development, intellectual disability, seizures, and distinctive facial features such as a long face, prominent forehead, and wide-set eyes. Other feat  Read More

Bosley-Salih-Alorainy syndrome (BSA) is a rare genetic disorder characterized by intellectual disability, seizures, and facial dysmorphism. It is caused by a mutation in the gene encoding the transcription factor FOXG1. Symptoms of BSA include delayed development, intellectual disability, seizures, hypotonia, and facial dysmorphism. Other features may include hearing loss, vision problems, and behavioral issues.  Read More

Bosma Arhinia Microphthalmia Syndrome (BAMS) is a rare genetic disorder characterized by the absence of the nose, the absence of the eyes, and the presence of small eyes (microphthalmia). It is caused by a mutation in the ARHGAP29 gene. Symptoms may include facial malformations, hearing loss, and intellectual disability. Treatment is supportive and may include hearing aids, speech therapy, and physical therapy.  Read More

Bothnia retinal dystrophy is a rare genetic disorder that affects the eyes. It is characterized by progressive vision loss due to the degeneration of the retina. Symptoms typically begin in childhood and can include night blindness, decreased visual acuity, and decreased color vision. In some cases, the condition can lead to complete blindness. There is currently no cure for Bothnia retinal dystrophy, but treatments such as low vision aids and  Read More

Botulism is a rare but serious paralytic illness caused by a nerve toxin that is produced by the bacterium Clostridium botulinum. The toxin can affect the nerves that control muscle movement, leading to paralysis. Botulism can be fatal and is considered a medical emergency.  Read More

Boutonneuse fever, also known as Mediterranean spotted fever, is a bacterial infection caused by Rickettsia conorii. It is spread by the bite of an infected tick and is most common in Mediterranean countries, the Middle East, and parts of Africa. Symptoms include fever, headache, rash, and muscle pain. Treatment typically involves antibiotics.  Read More

Bowen disease is a type of skin cancer that is caused by an abnormal growth of cells in the outer layer of the skin. It is also known as squamous cell carcinoma in situ. It usually appears as a red, scaly patch on the skin and can be found on any part of the body. It is usually treated with topical medications, cryotherapy, or surgery.  Read More

Bowen Hutterite Syndrome is a rare genetic disorder that affects the development of the eyes, ears, and facial features. It is caused by a mutation in the gene that codes for the protein filamin A. Symptoms of the disorder include hearing loss, vision problems, and facial abnormalities such as a small jaw, a flat midface, and a wide nasal bridge. Other features may include cleft palate, heart defects, and intellectual disability.  Read More

Bowen-Conradi syndrome is a rare genetic disorder that is characterized by a combination of physical and developmental abnormalities. It is caused by a mutation in the PEX1 gene, which is responsible for the production of the enzyme peroxisomal biogenesis factor 1. Symptoms of the disorder include facial abnormalities, growth delays, intellectual disability, and vision and hearing problems.  Read More

Bowenoid papulosis is a rare skin condition that is characterized by the presence of multiple, small, flat or slightly raised, wart-like lesions on the skin. These lesions are usually found on the genital area, but can also occur on other parts of the body. They are usually brown or black in color and may be itchy or painful. Bowenoid papulosis is caused by a virus, usually the human papillomavirus (HPV). Treatment typically involves topical m  Read More

Brachydactylous dwarfism, Mseleni type is a rare genetic disorder characterized by short stature, short fingers and toes, and a distinctive facial appearance. It is caused by a mutation in the gene that codes for the protein fibroblast growth factor receptor 3 (FGFR3). Affected individuals typically have a short stature, short fingers and toes, and a distinctive facial appearance with a broad forehead, a flat nasal bridge, and a wide mouth. Ot  Read More

Brachydactyly type A1 is a form of brachydactyly, which is a condition characterized by shortening of the fingers and toes. In type A1, the middle phalanges of the fingers and toes are short and the distal phalanges are normal.  Read More

Brachydactyly type A2 is a form of brachydactyly, which is a condition characterized by shortening of the fingers and toes. In type A2, the middle phalanges of the fingers and toes are short and the distal phalanges are normal.  Read More

Brachydactyly type A4 is a rare genetic disorder characterized by shortening of the middle phalanges of the fingers and toes. It is caused by a mutation in the gene that codes for the protein fibroblast growth factor receptor 3 (FGFR3). People with this condition may also have short stature, a curved spine, and other skeletal abnormalities.  Read More

Brachydactyly type A6 is a rare genetic disorder characterized by shortening of the middle phalanges of the fingers and toes. It is caused by a mutation in the HOXD13 gene. Symptoms may include shortening of the middle phalanges of the fingers and toes, as well as a wide gap between the first and second toes.  Read More

Brachydactyly type A7 is a rare genetic disorder characterized by shortening of the middle phalanges of the fingers and toes. It is caused by a mutation in the HOXD13 gene. Symptoms may include shortening of the middle phalanges, a wide gap between the middle and distal phalanges, and a wide gap between the proximal and middle phalanges.  Read More

Brachydactyly type B is a rare genetic disorder characterized by shortening of the fingers and toes. It is caused by a mutation in the gene that codes for the protein fibroblast growth factor receptor 3 (FGFR3). Symptoms of this disorder include shortening of the fingers and toes, as well as a wide gap between the first and second toes. In some cases, the nails may be abnormally shaped or curved.  Read More

Brachydactyly type B1 is a rare genetic disorder characterized by shortening of the middle phalanges of the fingers and toes. It is caused by a mutation in the gene that codes for the protein fibroblast growth factor receptor 3 (FGFR3). Symptoms may include shortening of the middle phalanges, a wide gap between the first and second toes, and a wide gap between the first and second fingers.  Read More

Brachydactyly type B2 is a rare genetic disorder characterized by shortening of the middle phalanges of the fingers and toes. It is caused by a mutation in the gene that codes for the protein fibroblast growth factor receptor 3 (FGFR3). Symptoms may include shortening of the middle phalanges, a wide gap between the first and second toes, and a wide gap between the first and second fingers.  Read More

Brachydactyly type C is a rare genetic disorder characterized by shortening of the fingers and toes. It is caused by a mutation in the gene that codes for the protein fibroblast growth factor receptor 3 (FGFR3). Symptoms of this disorder include shortening of the fingers and toes, as well as a wide gap between the first and second toes. In some cases, the nails may be abnormally shaped or curved.  Read More

Brachydactyly type E is a rare genetic disorder characterized by shortening of the fingers and toes. It is caused by a mutation in the gene that codes for the protein fibroblast growth factor receptor 3 (FGFR3). Symptoms may include shortening of the fingers and toes, as well as other skeletal abnormalities.  Read More

Brachydactyly-arterial hypertension syndrome is a rare genetic disorder characterized by short fingers and toes (brachydactyly) and high blood pressure (arterial hypertension). It is caused by a mutation in the gene that codes for the protein kinase C-alpha (PRKCA). Symptoms of the disorder can include short fingers and toes, high blood pressure, and a variety of other physical and neurological abnormalities. Treatment typically involves medic  Read More

Brachydactyly-elbow wrist dysplasia syndrome is a rare genetic disorder that affects the development of the elbow and wrist joints. It is characterized by shortening of the bones in the forearm, resulting in a bent or curved appearance of the elbow and wrist joints. It can also cause joint stiffness, pain, and limited range of motion.  Read More

Brachydactyly-long thumb syndrome is a rare genetic disorder characterized by shortening of the fingers and toes, as well as an abnormally long thumb. It is caused by a mutation in the HOXD13 gene, which is responsible for the development of the hands and feet. Symptoms may include shortening of the fingers and toes, an abnormally long thumb, and a wide gap between the first and second toes. Other features may include a curved fifth finger, a  Read More

Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare genetic disorder characterized by short fingers and toes (brachydactyly), short stature (mesomelia), intellectual disability, and heart defects. It is caused by a mutation in the gene encoding the transcription factor TBX5. Treatment is symptomatic and supportive.  Read More

Brachydactyly-nystagmus-cerebellar ataxia syndrome (BNCA) is a rare genetic disorder characterized by short fingers and toes (brachydactyly), involuntary eye movements (nystagmus), and difficulty with coordination and balance (cerebellar ataxia). It is caused by a mutation in the GPR143 gene. Symptoms may include developmental delay, intellectual disability, hearing loss, and vision problems. Treatment is supportive and may include physical th  Read More

Brachydactyly-preaxial hallux varus syndrome is a rare genetic disorder characterized by shortening of the fingers and toes (brachydactyly) and an inward turning of the big toe (hallux varus). It is caused by a mutation in the HOXD13 gene. Symptoms may include shortening of the fingers and toes, an inward turning of the big toe, and a wide gap between the first and second toes. Other features may include a short stature, a curved spine, and a  Read More

Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare genetic disorder characterized by short stature, brachydactyly (abnormally short fingers and toes), and retinitis pigmentosa (a progressive eye disorder that causes vision loss). It is caused by a mutation in the PEX7 gene. Symptoms may also include hearing loss, intellectual disability, and skeletal abnormalities. Treatment is supportive and may include physical therapy, occu  Read More

Brachydactyly-syndactyly, Zhao type is a rare genetic disorder characterized by short fingers and toes (brachydactyly) and webbing of the fingers and toes (syndactyly). It is caused by a mutation in the HOXD13 gene and is inherited in an autosomal dominant pattern. Symptoms may include short fingers and toes, webbing of the fingers and toes, and a wide gap between the first and second toes. Treatment is typically supportive and may include phy  Read More

Brachymorphism-onychodysplasia-dysphalangism syndrome (BOD) is a rare genetic disorder characterized by short stature, abnormal nails, and abnormal development of the fingers and toes. It is caused by a mutation in the gene that codes for the protein fibroblast growth factor receptor 3 (FGFR3). Symptoms of BOD include short stature, abnormal nails, and abnormal development of the fingers and toes. Other features may include a short neck, webbe  Read More

Brachyolmia, Maroteaux type is a rare genetic disorder that affects the bones and joints. It is caused by a mutation in the COL2A1 gene, which is responsible for producing type II collagen. Symptoms of this disorder include short stature, joint stiffness, and skeletal deformities. People with this disorder may also experience hearing loss, vision problems, and respiratory difficulties.  Read More

Brachyolmia-amelogenesis imperfecta syndrome is a rare genetic disorder that affects the development of bones and teeth. It is characterized by short stature, skeletal abnormalities, and a form of amelogenesis imperfecta (AI), which is a condition that affects the development of teeth. People with this syndrome may have abnormally shaped teeth, discoloration, and enamel defects. They may also have hearing loss, vision problems, and other physi  Read More

Brachytelephalangic chondrodysplasia punctata (BCDP) is a rare genetic disorder that affects the development of bones and cartilage. It is characterized by shortening of the bones in the arms and legs, as well as punctate calcifications in the cartilage. Other features of the disorder include facial abnormalities, joint contractures, and intellectual disability. Treatment is supportive and may include physical and occupational therapy, orthope  Read More

Brachytelephalangy-dysmorphism-Kallmann syndrome is a rare genetic disorder characterized by short stature, brachytelephalangy (shortening of the bones in the arms and legs), dysmorphic facial features, and hypogonadotropic hypogonadism (a condition in which the body does not produce enough hormones to support normal sexual development). It is caused by a mutation in the KAL1 gene, which is responsible for the production of a protein that help  Read More

Braddock syndrome is a rare genetic disorder characterized by a combination of physical and mental disabilities. It is caused by a mutation in the gene that codes for the protein dystrophin. Symptoms of Braddock syndrome include intellectual disability, seizures, muscle weakness, and vision and hearing problems.  Read More

Bradyopsia is a condition in which a person has difficulty seeing objects that are moving quickly. It is a type of visual impairment that is caused by damage to the visual pathways in the brain. Symptoms of bradyopsia include difficulty tracking moving objects, blurred vision, and difficulty perceiving depth.  Read More

Brain calcification, Rajab type is a rare genetic disorder characterized by the abnormal accumulation of calcium deposits in the brain. It is caused by a mutation in the SLC20A2 gene, which is responsible for transporting phosphate into cells. Symptoms of this disorder include seizures, intellectual disability, and movement disorders. Treatment typically involves medications to control seizures and physical therapy to help with movement.  Read More

Brain demyelination due to methionine adenosyltransferase deficiency is a rare genetic disorder caused by a deficiency of the enzyme methionine adenosyltransferase (MAT). This enzyme is responsible for the production of S-adenosylmethionine (SAMe), an important molecule involved in many biochemical processes in the body. When MAT is deficient, SAMe levels are reduced, leading to a decrease in the production of myelin, the fatty substance that  Read More

Brain dopamine-serotonin vesicular transport disease is a rare genetic disorder that affects the brain's ability to transport dopamine and serotonin. It is caused by a mutation in the SLC18A2 gene, which is responsible for the production of a protein that helps transport these neurotransmitters. Symptoms of this disorder can include intellectual disability, seizures, movement disorders, and behavioral problems. Treatment typically involves med  Read More

Brain imaging in venous vascular malformations is a type of imaging technique used to diagnose and monitor the progression of venous vascular malformations. It involves the use of MRI, CT, or ultrasound scans to create detailed images of the brain and its blood vessels. These images can help doctors identify the location, size, and shape of the malformation, as well as any associated complications. Brain imaging can also be used to monitor the  Read More

Brain malformation-congenital heart disease-postaxial polydactyly syndrome is a rare genetic disorder characterized by the presence of an extra finger or toe on the side of the hand or foot furthest from the thumb or big toe, as well as malformations of the brain and heart. It is caused by a mutation in the GLI3 gene. Symptoms may include developmental delays, intellectual disability, seizures, and vision and hearing problems. Treatment typica  Read More

Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrom is a rare genetic disorder characterized by a combination of brain malformations, musculoskeletal abnormalities, facial dysmorphism, and intellectual disability. It is caused by a mutation in a gene that is responsible for the development of the brain, muscles, and facial features. Symptoms may include seizures, developmental delays, and physic  Read More

Brain Meningioma Imaging is a type of imaging used to diagnose and monitor meningiomas, which are tumors that form on the membranes that cover the brain and spinal cord. This type of imaging typically includes MRI, CT, and PET scans. These scans can help doctors determine the size, shape, and location of the tumor, as well as its potential to spread.  Read More

Brain-lung-thyroid syndrome (BLTS) is a rare genetic disorder that affects the brain, lungs, and thyroid. It is caused by a mutation in the gene that codes for the protein thyroid transcription factor-1 (TTF-1). Symptoms of BLTS include intellectual disability, seizures, respiratory problems, and thyroid dysfunction. Treatment typically involves managing the symptoms with medications, physical therapy, and other therapies.  Read More

Branchio-oculo-facial syndrome (BOFS) is a rare genetic disorder that affects the development of the head and neck. It is characterized by a variety of physical features, including branchial arch anomalies, ear malformations, facial dysmorphism, and ocular abnormalities. It is caused by mutations in the EYA1 gene. BOFS is inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is necessary for a person to be  Read More

Branchio-oculo-facial syndrome (BOFS) is a rare genetic disorder characterized by a combination of physical features, including branchial arch anomalies, ocular abnormalities, and facial dysmorphism. It is caused by mutations in the EYA1 gene. Symptoms may include hearing loss, cleft palate, preauricular pits, and malformations of the eyes, ears, and face. Treatment is symptomatic and may include hearing aids, speech therapy, and surgery.  Read More

Branchiogenic deafness syndrome is a genetic disorder that affects the development of the inner ear and causes hearing loss. It is caused by mutations in the GJB2 gene, which is responsible for the production of a protein called connexin 26. This protein is essential for the proper development of the inner ear and its function. People with this disorder typically have hearing loss that is present from birth or develops in early childhood. Trea  Read More

Branchiootic syndrome is a rare genetic disorder that affects the development of the head and neck. It is characterized by the presence of branchial cleft cysts, preauricular pits, and/or fistulas, as well as hearing loss and other abnormalities. It is caused by mutations in the EYA1 gene.  Read More

Branchiootorenal Spectrum Disorders (BOR) is a group of rare genetic disorders that affect the development of the head and neck, including the ears, eyes, and kidneys. It is caused by mutations in the EYA1, SIX1, and SIX5 genes. Symptoms can include hearing loss, facial abnormalities, and kidney problems. Treatment may include hearing aids, surgery, and medications.  Read More

Branchioskeletogenital syndrome is a rare genetic disorder that affects the development of the head, neck, and reproductive organs. It is characterized by malformations of the branchial arches, which are the structures that form the face and neck, as well as malformations of the skeleton and genitalia. Symptoms may include cleft lip and palate, hearing loss, and abnormalities of the heart, kidneys, and reproductive organs.  Read More

Brazilian hemorrhagic fever (BHF) is a rare and potentially fatal viral disease caused by the Sabia virus, which is a member of the Arenaviridae family. It is found in the wild in Brazil and is spread to humans through contact with infected rodents. Symptoms of BHF include fever, headache, muscle aches, nausea, vomiting, and bleeding from the nose, mouth, and other body parts. In severe cases, the virus can cause organ failure and death.  Read More

BRESEK syndrome is a rare genetic disorder characterized by a combination of physical and mental disabilities. It is caused by a mutation in the gene that codes for the enzyme lysyl oxidase-like 1 (LOXL1). Symptoms of BRESEK syndrome include intellectual disability, seizures, hearing loss, vision problems, and skeletal abnormalities.  Read More

Brill-Zinsser disease is a rare form of recurrent typhus caused by the bacteria Rickettsia prowazekii. It is a milder form of typhus that can occur years after a person has recovered from a previous bout of epidemic typhus. Symptoms of Brill-Zinsser disease include fever, headache, and rash. Treatment typically involves antibiotics.  Read More

Brittle cornea syndrome (BCS) is a rare genetic disorder that affects the cornea, the clear outer layer of the eye. It is characterized by thinning of the cornea, which can lead to vision problems, eye pain, and sensitivity to light. In some cases, the cornea can become so thin that it can rupture, leading to vision loss. BCS is caused by mutations in the ZNF469 gene, which is responsible for producing a protein that helps maintain the structu  Read More

Brody myopathy is a rare, inherited disorder that affects the muscles and connective tissues. It is characterized by muscle weakness, joint stiffness, and a decrease in muscle mass. Symptoms usually begin in childhood and can worsen over time. Treatment typically involves physical therapy, medications, and lifestyle modifications.  Read More

Bronchial neuroendocrine tumors (NETs) are a type of cancer that develops in the cells of the bronchial tree, which is the network of airways that carry air to and from the lungs. These tumors are usually slow-growing and can be benign or malignant. They are often difficult to diagnose because they do not cause any symptoms until they have grown to a large size. Treatment options for bronchial NETs include surgery, chemotherapy, and radiation  Read More

Bronchiolitis Obliterans Organizing Pneumonia (BOOP) is a rare form of interstitial lung disease. It is characterized by inflammation and scarring of the small airways of the lungs, leading to obstruction of airflow. Symptoms of BOOP include shortness of breath, cough, and fever. Treatment typically involves corticosteroids and antibiotics.  Read More

Bronchiolitis obliterans with obstructive pulmonary disease (BOOP) is a rare lung disorder that is characterized by inflammation and scarring of the small airways of the lungs (bronchioles). This inflammation and scarring can lead to a narrowing of the airways, resulting in difficulty breathing and a decrease in the amount of oxygen that can be taken in. BOOP is a progressive disorder, meaning that it can worsen over time. Treatment typically  Read More

A bronchogenic cyst is a rare congenital malformation of the respiratory tract. It is a cyst that forms in the bronchial tree, usually in the mediastinum, and is filled with fluid or air. Bronchogenic cysts can cause respiratory symptoms such as coughing, wheezing, and shortness of breath. They can also cause chest pain, difficulty swallowing, and recurrent infections. Treatment typically involves surgical removal of the cyst.  Read More

Bronchopulmonary dysplasia (BPD) is a chronic lung disease that affects premature babies who have been on a ventilator for a long period of time. It is caused by the damage to the lungs from the mechanical ventilation and oxygen therapy used to help the baby breathe. Symptoms of BPD include difficulty breathing, wheezing, and recurrent infections. Treatment for BPD includes supplemental oxygen, medications, and physical therapy.  Read More

Brooke-Spiegler syndrome is a rare autosomal dominant disorder characterized by multiple benign tumors of the skin and mucous membranes. It is caused by a mutation in the CYLD gene, which is responsible for regulating cell growth and death. Symptoms include multiple trichoepitheliomas (benign tumors of the hair follicles), cylindromas (benign tumors of the sweat glands), and spiradenomas (benign tumors of the sweat glands). Treatment typically  Read More

There is no cure for Brown-Sequard Syndrome, but medications may be used to help manage symptoms. These may include pain medications, muscle relaxants, and physical therapy. Surgery may also be used to help relieve pressure on the spinal cord.  Read More

Brown Syndrome is a rare eye movement disorder that affects the ability of the eyes to move outward. It is caused by a tightness of the superior oblique tendon, which limits the movement of the eye. Symptoms include limited outward movement of the eye, double vision, and difficulty with certain eye movements. Treatment typically involves physical therapy and/or surgery.  Read More

Brown-Sequard Syndrome is a rare neurological disorder caused by damage to one side of the spinal cord. It is characterized by paralysis on the side of the body opposite the damaged side of the spinal cord, as well as loss of sensation on the same side. Other symptoms may include loss of coordination, weakness, and changes in bladder and bowel control.  Read More

Brucellosis is a bacterial infection caused by the bacteria Brucella. It is a zoonotic disease, meaning it can be spread from animals to humans. Symptoms of brucellosis in humans include fever, fatigue, joint pain, and headaches. Treatment typically involves antibiotics.  Read More

Bruck syndrome is a rare genetic disorder characterized by joint laxity, skeletal abnormalities, and skin fragility. It is caused by mutations in the lamin A/C gene, which is responsible for the production of laminin, a protein that helps to form the structural framework of cells. Symptoms of Bruck syndrome can include joint hypermobility, skeletal deformities, fragile skin, and hernias.  Read More

Brugada Syndrome is a genetic disorder that affects the electrical activity of the heart. It is characterized by abnormal electrocardiogram (ECG) readings and can cause sudden cardiac death. Symptoms may include fainting, seizures, and irregular heartbeats. It is most common in males and is often associated with a family history of the disorder. Treatment typically involves medications and implantable devices to regulate the heart's electrical  Read More

Budd-Chiari syndrome is a rare liver disorder caused by blockage of the hepatic veins, which are the veins that carry blood from the liver. This blockage prevents blood from flowing out of the liver, leading to liver enlargement, liver damage, and other complications. Symptoms of Budd-Chiari syndrome include abdominal pain, swelling of the abdomen, jaundice, and ascites (fluid buildup in the abdomen). Treatment typically involves medications t  Read More

Budd-Chiari Syndrome is a rare liver disorder caused by blockage of the hepatic veins, which are the veins that carry blood from the liver. Symptoms of Budd-Chiari Syndrome include abdominal pain, swelling of the abdomen, jaundice, and ascites (fluid buildup in the abdomen). Treatment for Budd-Chiari Syndrome may include medications, surgery, or a liver transplant.  Read More

Budd-Chiari Syndrome Imaging is a type of imaging used to diagnose Budd-Chiari Syndrome, a rare liver disorder. It involves using imaging techniques such as ultrasound, computed tomography (CT) scans, magnetic resonance imaging (MRI), and angiography to look for blockages in the veins of the liver. These blockages can cause a buildup of fluid in the liver, leading to liver damage and other complications.  Read More

Buerger's disease (also known as thromboangiitis obliterans) is a rare inflammatory disease of the blood vessels that primarily affects the arteries and veins in the arms and legs. It is characterized by inflammation and clotting of the blood vessels, leading to reduced blood flow and tissue damage. Symptoms include pain, numbness, and discoloration of the affected area. The cause of Buerger's disease is unknown, but it is believed to be relat  Read More

There is no cure for Buerger's Disease, but medications can be used to help manage the symptoms. These medications include anti-inflammatory drugs, anticoagulants, and vasodilators. In some cases, surgery may be necessary to remove blocked arteries.  Read More

Bullous diffuse cutaneous mastocytosis is a rare skin disorder characterized by the presence of large, fluid-filled blisters (bullae) on the skin. It is caused by an abnormal accumulation of mast cells in the skin. Symptoms may include itching, redness, and swelling of the skin. Treatment typically involves the use of topical corticosteroids and antihistamines.  Read More

Bullous impetigo is a type of bacterial skin infection caused by the bacteria Staphylococcus aureus or Streptococcus pyogenes. It is characterized by the formation of large, fluid-filled blisters on the skin. These blisters can be painful and may be accompanied by redness, itching, and swelling. Treatment typically involves antibiotics and topical medications.  Read More

Bullous lichen planus is a rare form of lichen planus, a chronic skin condition that causes an itchy, scaly rash. It is characterized by the formation of large, fluid-filled blisters (bullae) on the skin. The blisters can be painful and may cause scarring. Treatment typically involves topical corticosteroids and other medications to reduce inflammation and itching.  Read More

Bullous pemphigoid is a rare, chronic skin disorder that is characterized by large, fluid-filled blisters that form on the skin. It is an autoimmune disorder, meaning that the body's immune system mistakenly attacks healthy tissue. Symptoms of bullous pemphigoid include itchy, red skin, blisters that can range in size from small to large, and skin lesions that may be painful or tender. Treatment for bullous pemphigoid typically involves topica  Read More

Bullous pyoderma gangrenosum is a rare skin condition that causes painful, pus-filled blisters and ulcers on the skin. It is most commonly seen in people with inflammatory bowel disease, such as Crohn's disease or ulcerative colitis, but can also occur in people without any underlying medical condition. The blisters and ulcers can be very painful and can lead to scarring and disfigurement if left untreated. Treatment typically involves topical  Read More

Burkitt lymphoma is a type of non-Hodgkin lymphoma, a cancer of the lymphatic system. It is an aggressive form of cancer that is characterized by the rapid growth of B-cells, a type of white blood cell. It is most common in children and young adults, and is usually found in the abdomen, neck, or jaw. Treatment typically involves chemotherapy and radiation.  Read More

Burn-McKeown syndrome is a rare genetic disorder characterized by a combination of physical and developmental abnormalities. It is caused by a mutation in the gene encoding the protein filamin A. Symptoms of the disorder include intellectual disability, delayed motor development, seizures, and facial dysmorphism. Other features may include skeletal abnormalities, hearing loss, and vision problems.  Read More

Burning mouth syndrome (BMS) is a condition characterized by a burning sensation in the mouth that may occur every day for months or longer. It is often accompanied by changes in taste and a dry mouth. The cause of BMS is unknown, but it is thought to be related to nerve damage, hormonal changes, allergies, nutritional deficiencies, and certain medications. Treatment for BMS may include medications, dietary changes, and lifestyle modifications  Read More

Buschke-Ollendorff syndrome is a rare genetic disorder characterized by the presence of connective tissue tumors (dermatofibromas) on the skin. It is caused by a mutation in the gene encoding the protein laminin-5, which is involved in the formation of the skin's connective tissue. Symptoms of the disorder include the presence of multiple dermatofibromas, which are benign tumors that can range in size from a few millimeters to several centimet  Read More

Butterfly-shaped pigment dystrophy is a rare genetic disorder that affects the eyes. It is characterized by the presence of a dark, butterfly-shaped area of pigment in the center of the retina. This area of pigment can cause vision loss, as well as other vision problems such as decreased night vision, decreased color vision, and decreased peripheral vision.  Read More

Butyrylcholinesterase (BChE) deficiency is a rare inherited disorder caused by a deficiency of the enzyme butyrylcholinesterase. This enzyme is responsible for breaking down the neurotransmitter acetylcholine, which is involved in muscle contraction and other processes in the body. People with BChE deficiency may experience muscle weakness, seizures, and other neurological symptoms. Treatment typically involves medications to reduce the levels  Read More

BVES-related limb-girdle muscular dystrophy is a rare genetic disorder that affects the muscles of the arms and legs. It is caused by mutations in the BVES gene, which is responsible for producing a protein that helps regulate the structure and function of muscle cells. Symptoms of this disorder include muscle weakness, muscle wasting, and difficulty walking. In some cases, people with this disorder may also experience joint contractures, scol  Read More

Unfortunately, there is no cure for Borjeson-Forssman-Lehman Syndrome. However, there are medications that can help manage the symptoms of the disorder. These medications can include anticonvulsants, muscle relaxants, and medications to help with sleep. Additionally, physical and occupational therapy can help improve motor skills and coordination.  Read More

There is no known cure for Book syndrome. Treatment focuses on managing the symptoms, which may include physical therapy, occupational therapy, speech therapy, and medications to help with muscle spasms, seizures, and other symptoms.  Read More

What is metabolic syndrome? Metabolic syndrome is a cluster of metabolic risk factors that come together in a single individual. These metabolic factors include insulin resistance, hypertension (high blood pressure), cholesterol abnormalities, and an increased risk for blood clotting. Affected individuals are most often overweight or obese. An association between certain metabolic disorders and cardiovascular disease has been known sin  Read More

C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (ARHML) is a rare genetic disorder that affects the central nervous system. It is caused by mutations in the C11ORF73 gene, which is responsible for producing a protein that is important for the development of myelin, the protective coating around nerve cells. Symptoms of ARHML include developmental delay, intellectual disability, seizures, and movement problems. Treatment is  Read More

C3 glomerulonephritis is a type of glomerulonephritis, a kidney disorder that is caused by inflammation of the glomeruli, the tiny filters in the kidneys that help to filter waste and excess fluid from the blood. C3 glomerulonephritis is caused by an immune system disorder that leads to the buildup of a protein called C3 in the glomeruli. This can lead to kidney damage, proteinuria (excess protein in the urine), and hematuria (blood in the uri  Read More

C3 glomerulopathy is a rare kidney disorder that is characterized by the buildup of a protein called C3 in the glomeruli, which are the tiny filters in the kidneys that help remove waste from the blood. It can lead to kidney failure and other serious health problems. Treatment typically involves medications to reduce inflammation and slow the progression of the disease.  Read More

C3 Glomerulopathy is a group of rare kidney diseases that are characterized by the deposition of abnormal amounts of the protein C3 in the glomeruli, the tiny filters in the kidneys that remove waste from the blood. The two main types of C3 Glomerulopathy are Dense Deposit Disease (DDD) and C3 Glomerulonephritis (C3GN). DDD is characterized by the presence of dense deposits of C3 in the glomeruli, while C3GN is characterized by inflammation of  Read More

CACH syndrome (also known as Cohen Syndrome) is a rare genetic disorder characterized by a combination of physical, developmental, and behavioral problems. It is caused by a mutation in the COH1 gene. Symptoms may include intellectual disability, delayed growth, distinctive facial features, vision and hearing problems, and skeletal abnormalities.  Read More

CAD-CDG stands for Computer-Aided Design-Computer-Aided Drafting and Graphics. It is a type of software used to create and modify technical drawings, such as engineering and architectural designs. CAD-CDG software is used to create detailed drawings, which can then be used to create physical models or prototypes.  Read More

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a rare genetic disorder that affects the small blood vessels in the brain. It is caused by a mutation in the NOTCH3 gene, which leads to the buildup of a protein called granular osmiophilic material (GOM) in the walls of the blood vessels. This buildup can cause the vessels to become narrowed or blocked, leading to stroke-like symptoms, incl  Read More

CADDS (Computer Aided Design and Drafting System) is a computer-aided design (CAD) software package used for creating and editing technical drawings. It is used in a variety of industries, including architecture, engineering, and manufacturing. CADDS is used to create detailed drawings of components, assemblies, and systems, as well as to generate 3D models and simulations.  Read More

CADINS disease is an acronym for Chronic Autoimmune Demyelinating Inflammatory Syndrome. It is a rare autoimmune disorder that affects the central nervous system, causing inflammation of the myelin sheath that surrounds and protects nerve cells. Symptoms of CADINS disease can include fatigue, muscle weakness, numbness, tingling, and vision problems.  Read More

Caffey disease, also known as infantile cortical hyperostosis, is a rare disorder that affects infants and young children. It is characterized by bone lesions, swelling, and tenderness in the long bones of the arms and legs. It can also cause fever, irritability, and joint stiffness. Treatment typically involves pain relief and physical therapy.  Read More

Calcifying aponeurotic fibroma is a rare, benign tumor of the soft tissue that typically occurs in the hands and feet of adults. It is characterized by the formation of a firm, fibrous mass that may contain calcium deposits. The tumor is usually painless and slow-growing, but can cause discomfort if it presses on a nerve or other structure. Treatment typically involves surgical removal of the tumor.  Read More

Calciphylaxis is a rare and serious condition that occurs when calcium builds up in small blood vessels in the skin and other tissues. It can lead to tissue death, ulceration, and gangrene. It is most common in people with end-stage kidney disease, but can also occur in people with other medical conditions.  Read More

Calciphylaxis cutis is a rare and serious skin condition that is caused by an accumulation of calcium in the small blood vessels of the skin. It is most commonly seen in people with chronic kidney disease, diabetes, and obesity. Symptoms of calciphylaxis cutis include painful, purplish patches of skin that may become ulcerated and infected. Treatment typically involves controlling the underlying condition, as well as medications to reduce calc  Read More

Calpain-3-related limb-girdle muscular dystrophy D4 (LGMD2A) is a rare, inherited neuromuscular disorder caused by mutations in the CAPN3 gene. It is characterized by progressive muscle weakness and wasting (atrophy) of the muscles of the hips, shoulders, and upper arms. Symptoms usually begin in childhood or adolescence and may include difficulty walking, climbing stairs, and lifting objects. Other symptoms may include muscle cramps, joint co  Read More

Calpain-3-related limb-girdle muscular dystrophy R1 (LGMD R1) is a rare, inherited neuromuscular disorder caused by mutations in the CAPN3 gene. It is characterized by progressive muscle weakness and wasting, primarily affecting the muscles of the hips and shoulders. Symptoms usually begin in childhood or adolescence and can range from mild to severe. Common symptoms include difficulty walking, climbing stairs, and lifting objects. Other sympt  Read More

Calvarial doughnut lesions-bone fragility syndrome is a rare genetic disorder characterized by fragile bones and the presence of doughnut-shaped lesions on the skull. These lesions are caused by a lack of calcium in the bones, which can lead to fractures and deformities. Other symptoms of this disorder include short stature, delayed development, and hearing loss. Treatment typically involves calcium and vitamin D supplements, physical therapy,  Read More

CAMOS syndrome is a rare genetic disorder characterized by a combination of craniofacial, auditory, musculoskeletal, ocular, and skin abnormalities. It is caused by a mutation in the PEX1 gene. Symptoms may include hearing loss, cleft palate, skeletal abnormalities, vision problems, and skin abnormalities.  Read More

Campomelia, Cumming type is a rare genetic disorder characterized by a combination of skeletal abnormalities, including short stature, short ribs, and a narrow chest. It is caused by a mutation in the gene encoding the protein filamin A. Symptoms may include short stature, skeletal abnormalities, and intellectual disability.  Read More

Campomelic dysplasia is a rare genetic disorder that affects the development of bones and other body parts. It is caused by a mutation in the SOX9 gene, which is responsible for the production of a protein that helps regulate the development of cartilage and bone. Symptoms of Campomelic dysplasia include short stature, skeletal abnormalities, and heart and respiratory problems. In some cases, the disorder can also cause intellectual disability  Read More

Campomelic Syndrome is a rare genetic disorder that affects the development of bones and other body systems. It is caused by a mutation in the SOX9 gene, which is responsible for the production of a protein that helps regulate the development of bones and other body systems. Symptoms of Campomelic Syndrome include skeletal abnormalities, such as short stature, scoliosis, and malformed bones; heart defects; and genital abnormalities. Other symp  Read More

Camptobrachydactyly is a rare genetic disorder characterized by shortening of the fingers and toes, as well as a curved or bent appearance of the fingers and toes. It is caused by a mutation in the HOXD13 gene. Symptoms may include shortening of the fingers and toes, a curved or bent appearance of the fingers and toes, and a wide gap between the first and second toes.  Read More

Camptodactyly of fingers is a condition in which the fingers are permanently bent in a flexed position. It is caused by a tightening of the tendons and ligaments in the fingers, which prevents them from straightening out. Symptoms may include pain, stiffness, and difficulty with gripping and grasping objects. Treatment may include physical therapy, splinting, and surgery.  Read More

Camptodactyly Syndrome, Guadalajara Type 1 (CSG1) is a rare genetic disorder characterized by the permanent flexion of the fingers and toes. It is caused by a mutation in the gene encoding the protein filamin A, which is involved in the formation of the cytoskeleton. Symptoms of CSG1 include camptodactyly (permanent flexion of the fingers and toes), joint contractures, and facial dysmorphism. Other features may include short stature, intellect  Read More

Camptodactyly Syndrome, Guadalajara Type 2 (CSG2) is a rare genetic disorder characterized by the permanent flexion of the fingers and toes, as well as other skeletal abnormalities. It is caused by a mutation in the gene encoding the protein filamin A (FLNA). Symptoms of CSG2 include camptodactyly (permanent flexion of the fingers and toes), joint contractures, scoliosis, and facial dysmorphism. Other features may include short stature, intell  Read More

Camptodactyly Syndrome, Guadalajara Type 3 (CSG3) is a rare genetic disorder characterized by the permanent flexion of the fingers and toes, as well as other skeletal abnormalities. It is caused by a mutation in the gene encoding the protein filamin A, which is involved in the formation of the cytoskeleton. Symptoms of CSG3 include camptodactyly (permanent flexion of the fingers and toes), joint contractures, scoliosis, and short stature. Othe  Read More