Waardenburg syndrome - Overview
Klein-Waardenburg syndrome; Waardenburg-Shah syndrome
Definition of Waardenburg syndrome:
Waardenburg syndrome is a group of conditions passed down through families that involve deafness and pale skin, hair, and eye color.
Causes, incidence, and risk factors:
Waardenburg syndrome is inherited as an autosomal dominant trait, meaning only one parent has to pass on the faulty gene for a child to be affected.
There are four main types of Waardenburg syndrome. The most common are Type I and Type II.
Type III (Klein-Waardenburg syndrome) and type IV (Waardenburg-Shah syndrome) are more rare.
The multiple types of this syndrome result from defects in different genes. Most people with this disease have a parent with the disease, but the symptoms in the parent can be quite different from those in the child.
- Reviewed last on: 8/4/2011
- Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
Morelli JG. Hypopigmented Lesions. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th Ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 652.
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