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

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

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

Cerebro-oculo-facio-skeletal (COFS) syndrome is a genetic degenerative disorder of the brain and spinal cord that begins before birth. The disorder is characterized by growth failure at birth and little or no neurological development, structural abnormalities of the eye and fixed bending of the spine and joints. Abnormalities of the skull, face, limbs and other parts of the body may also occur. COFS syndrome is inherited as an autosomal recess  Read More

Familial dysautonomia is a rare genetic disorder of the autonomic nervous system (ANS) that primarily affects people of Eastern European Jewish heritage. It is characterized by diminished sensitivity to pain, lack of overflow tearing in the eyes, a decrease in the number of knob-like projections that cover the tongue (fungiform papillae), unusual fluctuations of body temperature, and unstable blood pressure. Symptoms of this disorder are appar  Read More

Eales Disease is a rare disorder of sight that appears as an inflammation and white haze around the outercoat of the veins in the retina. The disorder is most prevalent among young males and normally affects both eyes. Usually, vision is suddenly blurred because the clear jelly that fills the eyeball behind the lens of the eye seeps out (vitreous hemorrhaging).  Read More

Proteus syndrome is a rare disorder characterized by overgrowth of various tissues of the body. The cause of the disorder is a mosaic mutation in a gene called AKT1. Disproportionate, asymmetric overgrowth occurs in a mosaic pattern (i.e., a random "patchy" pattern of affected and unaffected areas). Affected individuals may experience a wide variety of complications that may include progressive skeletal malformations, benign and malignant tumo  Read More

Familial lipoprotein lipase (LPL) deficiency is a rare genetic metabolic disorder characterized by a deficiency of the enzyme lipoprotein lipase. The deficiency of this enzyme prevents affected individuals from properly digesting certain fats and results in a massive accumulation of fatty droplets called chylomicrons in the circulation (chylomicronemia) and consequently also an increase in the plasma concentration of fatty substances called tr  Read More

Galloway-Mowat Syndrome, which is also known as Microcephaly-Hiatal Hernia-Nephrotic Syndrome, is an extremely rare genetic disorder that is characterized by a variety of physical and developmental abnormalities. Physical features may include an unusually small head (microcephaly) and additional abnormalities of the head and facial (craniofacial) area; damage to clusters of capillaries in the kidneys (focal glomerulosclerosis and/or diffuse me  Read More

Galloway-Mowat Syndrome, which is also known as Microcephaly-Hiatal Hernia-Nephrotic Syndrome, is an extremely rare genetic disorder that is characterized by a variety of physical and developmental abnormalities. Physical features may include an unusually small head (microcephaly) and additional abnormalities of the head and facial (craniofacial) area; damage to clusters of capillaries in the kidneys (focal glomerulosclerosis and/or diffuse me  Read More

Glutaricaciduria I (GA-I) is a rare hereditary metabolic disorder, caused by a deficiency of the enzyme glutaryl-CoA dehydrogenase. One of a group of disorders known as "organic acidemias," it is characterized by an enlarged head (macrocephaly), decreased muscle tone (hypotonia), vomiting, and excess acid in the blood. Affected individuals may also have involuntary movements of the trunk and limbs (dystonia or athetosis) and mental retardation  Read More

Vogt-Koyanagi-Harada disease is a rare disorder of unknown origin that affects many body systems, including as the eyes, ears, skin, and the covering of the brain and spinal cord (the meninges). The most noticeable symptom is a rapid loss of vision. There may also be neurological signs such as severe headache, vertigo, nausea, and drowsiness. Loss of hearing, and loss of hair (alopecia) and skin color may occur along, with whitening (loss of p  Read More

Familial dysautonomia is a rare genetic disorder of the autonomic nervous system (ANS) that primarily affects people of Eastern European Jewish heritage. It is characterized by diminished sensitivity to pain, lack of overflow tearing in the eyes, a decrease in the number of knob-like projections that cover the tongue (fungiform papillae), unusual fluctuations of body temperature, and unstable blood pressure. Symptoms of this disorder are appar  Read More

Isovaleric Acidemia is a hereditary metabolic disorder. It is characterized by a deficiency of the enzyme isovaleryl CoA dehydrogenase. The disorder occurs in both an acute and a chronic intermittent form. In the acute form of Isovaleric Acidemia, vomiting, refusal to eat, and listlessness usually occur. With treatment and low protein diet, the disorder becomes chronically intermittent, and a nearly normal life is possible.  Read More

Joubert syndrome is an autosomal recessive genetic disorder that affects the area of the brain that controls balance and coordination. This condition is characterized by a specific finding on an MRI called a "molar tooth sign" in which the cerebellar vermis of the brain is absent or underdeveloped and the brain stem is abnormal. The most common features of Joubert syndrome are lack of muscle control (ataxia), abnormal breathing patterns (hyper  Read More

Marcus Gunn phenomenon is a rare genetic disorder that is usually present at birth. It is characterized by the movement of one upper eyelid in a rapid rising motion each time the jaw moves. Other eye abnormalities and vision difficulties may also occur. The exact cause of this phenomenon is not known.  Read More

N-acetylglutamate synthetase (NAGS) deficiency is a rare genetic disorder characterized by complete or partial lack of the enzyme N-acetylglutamate synthetase (NAGS). NAGS is one of six enzymes that play a role in the break down and removal of nitrogen from the body, a process known as the urea cycle. The lack of the NAGS enzyme results in excessive accumulation of nitrogen, in the form of ammonia, in the blood (hyperammonemia). Excess ammonia  Read More

Ochronosis is a type of condition triggered by malarial drugs, skin-lightening creams, and over-exposure to the sun. These are very difficult conditions for treatment and the results are unpredictable and inconsistent.These are various ways for treatments are as follows:Nonpharmacological measures: Sun protective clothes, goggles, and hats are important. Uses of offending agents must be stopped, and sun  Read More

Opsoclonus-myoclonus syndrome (OMS) is a paraneoplastic neurological disorder. It is characterized by associated ocular, motor, behavioral, sleep, and language disturbances. The onset is usually abrupt, often severe, and can become chronic.  Read More

Idiopathic nodular panniculitis usually begins gradually. Abnormal bumps or masses (nodules) appear in the fatty layer under the skin (subcutaneous fat) of the legs, thighs and buttocks. In some patients, the arms, abdomen, and/or face may be involved. These nodules are usually 1-2 centimeters wide and may be either painful and tender or painless. In some patients, the affected area may become blue and red (erythema), ulcerated (open sore with  Read More

Pantothenate kinase-associated neurodegeneration (PKAN), formerly called Hallervorden-Spatz syndrome, is a rare, inherited neurological movement disorder characterized by the progressive degeneration of the nervous system (neurodegenerative disorder). PKAN is the most common type of neurodegeneration with brain iron accumulation (NBIA), a group of clinical disorders marked by progressive abnormal involuntary movements, alterations in muscle to  Read More

Papillitis, also known as optic neuritis, is characterized by inflammation and deterioration of the portion of the optic nerve known as the optic disk. Also referred to as the "blind spot," the optic disk (optic papilla) is that portion of the optic nerve that enters the eye and joins with the nerve-rich membrane lining the eye (retina). The optic nerves are the pair of nerves (second cranial nerves) that transmit impulses from the retina to t  Read More

Papillon-Lefèvre syndrome is characterized by the development of dry scaly patches of skin (hyperkeratosis) usually around the age of one to five years. These patches are usually confined to the undersides of the hands and feet, but may spread to the knees and elbows. Rarely, the upper portions of the hands and feet, the eyelids, the lips, the cheeks, and/or other areas of the body may also be affected. Affected skin may be unusually re  Read More

Phosphoglycerate kinase deficiency is an inherited metabolic disorder of the enzyme pyruvate kinase, which affects the survival of red blood cells, causing anemia.Cause:Pyruvate kinase deficiency is due to a mutation in the PKLR gene. There are four pyruvate kinase isoenzymes, two of which are encoded by the PKLR.Mutations in the PKLR gene, therefore, cause a deficiency in the pyruvate kinase e  Read More

Cholinergic urticaria is a relatively common disorder of the immune system characterized by an immediate skin reaction (hypersensitivity) to heat, emotional stress, and/or exercise. Symptoms of the disorder include the appearance of distinctive small skin eruptions (hives) with well-defined borders and pale centers, surrounded by patches of red skin (wheal-and-flare reaction). These red areas are typically intensely itchy (pruritus). Occasiona  Read More

Propionic acidemia (PA) is an inherited disorder that unbales a person to digest certain types of protein and fats. Moreover, this condition leads to an abnormal buildup of particular acids known as organic acid since it is regarded as an organic acid disorder. Here are some risk factors associated with Propionic acidemia:Inheritance: PA has been inherited in such a pattern that both copies of gene PCCA and PCCB in  Read More

Recessive x-linked ichthyosis is a genetic skin disorder that results in extremely dry skin. Since it is a genetic disorder it is not curable, but the sign and symptoms can be controlled by the following methods.Skin softening cream and location: This disease is accompanied by fine or rhombus adherents' light gray or dark brown scaling on the skin. It can be treated with softening cream. These creams moisturize  Read More

Rosenberg-Chutorian syndrome is an extremely rare genetic disorder characterized by the triad of hearing loss, degeneration of the optic nerve (optic atrophy) and neurological abnormalities, specifically disease of the nerves outside of the central nervous system (peripheral neuropathy). The arms and legs are most often affected by peripheral neuropathy. Rosenberg-Chutorian syndrome is inherited as an X-linked disorder with occasional mild sym  Read More

The diencephalic syndrome is a very rare neurological disorder characterized by failure to thrive, abnormal thinness (emaciation), amnesia, intense sleepiness, unusual eye position and sometimes blindness. It is normally seen in infancy or early childhood but some cases have been reported in older children and even adults. Diencephalic syndrome is usually caused by a brain tumor such as a low-grade glioma or astrocytoma.  Read More

POEMS syndrome is an extremely rare multisystem disorder. POEMS is an acronym that stands for (P)olyneuropathy, disease affecting many nerves; (O)rganomegaly, abnormal enlargement of an organ; (E)ndocrinopathy, disease affecting certain hormone-producing glands that help to regulate sexual function, and certain metabolic functions; (M)onoclonal gammopathy or M proteins; and (S)kin abnormalities. Common symptoms include progressive weakness of  Read More

Tolosa-Hunt syndrome is a rare disorder characterized by severe periorbital headaches, along with decreased and painful eye movements (ophthalmoplegia). Symptoms usually affect only one eye (unilateral). In most cases, affected individuals experience intense sharp pain and decreased eye movements. Symptoms often will subside without intervention (spontaneous remission) and may recur without a distinct pattern (randomly). Affected individuals m  Read More

Wyburn-Mason syndrome is an extremely rare nonhereditary disorder that is present at birth (congenital). Affected infants have arteriovenous malformations (AVMs), which are developmental abnormalities affecting the blood vessels, specifically the arteries, veins and capillaries. Arteries typically carry oxygen-rich blood from the heart to body cells, while veins transport oxygen-deficient blood to the heart and lungs for the exchange of oxygen  Read More