The following Conditions are related to Mental retardation
Select a specific condition below to view its details.
- Coffin lowry syndrome
Coffin-Lowry syndrome is a rare genetic disorder characterized by mental retardation; abnormalities of the head and facial (craniofacial) area; large, soft hands with short, thin (tapered) fingers; short stature; and/or various skeletal abnormalities. Characteristic facial features may include an underdeveloped upper jawbone (maxillary hypoplasia), an abnormally prominent brow, downslanting eyelid folds (palpebral fissures), widely spaced eyes Read More
- Familial dysautonomia, type ii
The hereditary sensory neuropathies (HSN) include 4-6 similar but distinct inherited degenerative disorders of the nervous system (neurodegenerative) that frequently progress to loss of feeling, especially in the hands and feet. The classification of these diseases is complicated, and sometimes a source of disagreement among the experts. Hereditary sensory neuropathy type IV (HSN4) is a rare genetic disorder characterized by the lo Read More
- Fukuyama type congenital muscular dystrophy
Fukuyama type congenital muscular dystrophy (FCMD) is one of several forms of a rare type of muscular dystrophy known as congenital muscular dystrophy. It is inherited as an autosomal recessive trait. Symptoms of this disorder are apparent at birth and progress slowly. In addition to general muscle weakness and deformities of the joints (contractures), FCMD is often accompanied by seizures, mental retardation and speech problems. This disorder Read More
- Galloway syndrome
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
- Gangliosidosis gm1 type 1
Pseudo-Hurler polydystrophy (mucolipidosis type III) is a rare genetic metabolic disorder characterized by a defective enzyme known as UPD-N-acetylglucosamine-1-phosphotransferase. This defective enzyme ultimately results in the accumulation of certain complex carbohydrates (mucopolysaccharides) and fatty substances (mucolipids) in various tissues of the body. The symptoms of this disorder are similar, but less severe than those of I-cell dise Read More
- Hereditary sensory and autonomic neuropathy iv (hsn iv, hsan iv)
The hereditary sensory neuropathies (HSN) include 4-6 similar but distinct inherited degenerative disorders of the nervous system (neurodegenerative) that frequently progress to loss of feeling, especially in the hands and feet. The classification of these diseases is complicated, and sometimes a source of disagreement among the experts. Hereditary sensory neuropathy type IV (HSN4) is a rare genetic disorder characterized by the lo Read More
- Juberg-marsidi syndrome
Juberg-Marsidi syndrome is an extremely rare X-linked genetic disorder that is fully expressed in males only, and is apparent at birth (congenital) or during the first few weeks of life (neonatal period). Affected children exhibit severe mental retardation; delays in reaching developmental milestones (e.g., crawling, walking, etc.); muscle weakness; diminished muscle tone (hypotonia); and/or delayed bone growth as well as growth retardation, r Read More
- Slo syndrome
Smith-Lemli-Opitz syndrome (SLOS) is a variable genetic disorder that is characterized by slow growth before and after birth, small head (microcephaly), mild to moderate mental retardation and multiple birth defects including particular facial features, cleft palate, heart defects, fused second and third toes, extra fingers and toes and underdeveloped external genitals in males. The severity of SLOS varies greatly in affected individuals, even Read More
- Slos
Smith-Lemli-Opitz syndrome (SLOS) is a variable genetic disorder that is characterized by slow growth before and after birth, small head (microcephaly), mild to moderate mental retardation and multiple birth defects including particular facial features, cleft palate, heart defects, fused second and third toes, extra fingers and toes and underdeveloped external genitals in males. The severity of SLOS varies greatly in affected individuals, even Read More