Waardenburg syndrome type 2A

Overview

Waardenburg syndrome type 2A: A hereditary, autosomal dominant disorder

Symptoms

Wide nose bridge Pigmentary changes White forelock Heterochromia iridis White eyelashes

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 2A" should, strictly speaking, refer only to those signs and symptoms of Waardenburg syndrome type 2A that are not readily apparent to the patient. The word "symptoms of Waardenburg syndrome type 2A" is the more general meaning; see symptoms of Waardenburg syndrome type 2A. The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Waardenburg syndrome type 2A. This medical information about signs and symptoms for Waardenburg syndrome type 2A has been gathered from various sources, may not be fully accurate, and may not be the full list of Waardenburg syndrome type 2A signs or Waardenburg syndrome type 2A symptoms. Furthermore, signs and symptoms of Waardenburg syndrome type 2A 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 2A symptoms.