Profile of the genetic disease's subtypes, manifestations, diagnosis and management includes links to Medline abstracts.

Covers genetics, symptoms and current screening recommendations, provides a history of the illness, and recommends further reading.

Includes a description of the disease, treatment options and prognosis. Find details on current research being undertaken.

National Org. for Rare Disorders provides a general discussion of the disease. Find common synonyms and recommendations for further reading.