Waardenburg syndrome type 2
Overview
Waardenburg syndrome type 2: A hereditary, autosomal dominant disorder.
Symptoms
Individuals with type II Waardenburg syndrome are a heterogeneous group with normally located canthi (without dystopia canthorum). Sensorineural hearing loss (77%) and heterochromia iridium (47%) are the two most important diagnostic indicators for this type. Other clinical manifestations (eg, white forelock, skin patches) are more frequent in type I.
Causes
type II and type IV Waardenburg syndrome appear to have an autosomal recessive pattern of inheritance, which means two copies of the gene must be altered for a person to be affected by the disorder. Most often, the parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene.
Diagnosis
The phrase "signs of Waardenburg syndrome type 2" should, strictly speaking, refer only to those signs and symptoms of Waardenburg syndrome type 2 that are not readily apparent to the patient. The word "symptoms of Waardenburg syndrome type 2" is the more general meaning; see symptoms of Waardenburg syndrome type 2. The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Waardenburg syndrome type 2. This medical information about signs and symptoms for Waardenburg syndrome type 2 has been gathered from various sources, may not be fully accurate, and may not be the full list of Waardenburg syndrome type 2 signs or Waardenburg syndrome type 2 symptoms. Furthermore, signs and symptoms of Waardenburg syndrome type 2 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 2 symptoms.