Select a specific condition below to view its details.
- Cutaneous malignant melanoma, hereditary
Cutaneous Malignant Melanoma, hereditary, is also named dysplastic nevus syndrome. It is atypical mole syndrome. It is a skin disorder. There appears to be the presence of mole-like tumors on the skin, near about more than 100 moles over the body, which are atypical in size and structure. There can be any size, color or location of the moles. The normal moles are of the size of 5mm or more in diameter, but if ther Read More
- Mucopolysaccharidosis iv
Morquio syndrome (mucopolysaccharidosis type IV; MPS IV) is a mucopolysaccharide storage disease that exists in two forms (Morquio syndromes A and B) and occurs because of a deficiency of the enzymes N-acetyl-galactosamine-6-sulfatase and beta-galactosidase, respectively. A deficiency of either enzyme leads to the accumulation of mucopolysaccharides in the body, abnormal skeletal development, and additional symptoms. In most cases, individuals Read More
- Pili torti and nerve deafness
Bjornstad syndrome is an extremely rare inherited disorder characterized by the presence of abnormally flattened, twisted hair shafts (pili torti) and, in most cases, deafness (sensorineural hearing loss). Hearing loss typically affects both ears (bilateral). Individuals with this disorder usually have dry, fragile, lusterless, and/or coarse scalp hair as well as areas of patchy hair loss (alopecia). Both autosomal dominant and recessive inher Read More