Waardenburg syndrome type 3
Overview
Waardenburg syndrome, type 3: A rare syndrome involving deafness, pigmentation and musculoskeletal abnormalities
Symptoms
Type III Waardenburg syndrome (Klein-Waardenburg syndrome) is similar to type I but is also characterized by musculoskeletal abnormalities (ie, aplasia of the first 2 ribs, lack of differentiation of the small carpal bones, cystic formation of the sacrum, abnormalities of the arms [eg, amyoplasia and stiffness of the joints, bilateral cutaneous syndactyly]). Some individuals with type III Waardenburg syndrome are homozygotes. Other clinical manifestations of type III syndrome comprise the full symptomatology of the disease plus mental retardation, microcephaly, and severe skeletal anomalies.
Causes
Waardenburg syndrome type 1 Travoprost Uveitis Fuchs' heterochromic cyclitis Piebaldism
Diagnosis
The phrase "signs of Waardenburg syndrome, type 3" should, strictly speaking, refer only to those signs and symptoms of Waardenburg syndrome, type 3 that are not readily apparent to the patient. The word "symptoms of Waardenburg syndrome, type 3" is the more general meaning; see symptoms of Waardenburg syndrome, type 3. The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Waardenburg syndrome, type 3. This medical information about signs and symptoms for Waardenburg syndrome, type 3 has been gathered from various sources, may not be fully accurate, and may not be the full list of Waardenburg syndrome, type 3 signs or Waardenburg syndrome, type 3 symptoms. Furthermore, signs and symptoms of Waardenburg syndrome, type 3 may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Waardenburg syndrome, type 3 symptoms.