Select a specific condition below to view its details.
- Coffin syndrome
CSS is characterized by distinctive abnormalities of the head and facial (craniofacial) region with affected individuals often described as having coarse facial features that become more prominent with age. Affected individuals may have an unusually small or large head (micro- or macrocephaly); a wide mouth with full, prominent lips; a broad nasal tip; a low nasal bridge; and an abnormally long vertical groove between the nose and the upper li Read More
- Dubowitz syndrome
Dubowitz syndrome is a very rare genetic and developmental disorder involving multiple congenital (inherited) anomalies including but not limited to: (1) growth failure/short stature; (2) unusual but characteristic facial features; (3) a small head (microencephaly); (4) mild (usually) mental retardation; and (5), in at least 50% of the cases, eczema. Multiple organ systems are affected and the disorder is unpredictable and extremely variable i Read More
- Lowe-terry-maclachlan syndrome
Lowe-Terry-Maclachlan syndrome is a rare genetic disorder that causes abnormalities in the development of the skeleton, eyes, and other parts of the body.There are four risk factors for Lowe-terry-maclachlan syndrome:1. Genetic predisposition. The disease is caused by a mutation in the TSC1 or TSC2 gene. If one or both parents have the gene, their children are more likely to develop it.2. Ce Read More
- Rsh 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
- Syndactyly type i with microcephaly and ...
Filippi syndrome is an extremely rare genetic disorder that may be apparent at birth (congenital). The disorder is characterized by an unusual facial appearance, abnormalities of the fingers and toes, and mild to severe mental retardation. Primary physical findings include growth delays, webbing or fusion (syndactyly) of certain fingers and toes, inward deviation or bending (clinodactyly) of the fifth fingers ("pinkies") and microcephaly, cond Read More