The condition is marked by progressive deterioration, hepatosplenomegaly, dwarfism and gargoyle-like faces. There is a progressive mental retardation, with death frequently occurring by the age of 10 years.
Developmental delay is evident by the end of the first year, and patients usually stop developing between ages 2 and 4. This is followed by progressive mental decline and loss of physical skills. Language may be limited due to hearing loss and an enlarged tongue. In time, the clear layers of the cornea become clouded and retinas may begin to degenerate. Carpal tunnel syndrome (or similar compression of nerves elsewhere in the body) and restricted joint movement are common.
Hurler syndrome physical examination
Noonan syndrome physical examination
Cowden syndrome physical examination
Cretinism physical examination
Evans syndrome physical examination
Hunter syndrome physical examination
Alagille syndrome physical examination
Pott's disease physical examination