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Definition Return to top
Waardenburg syndrome is a group of hereditary conditions characterized by deafness and partial albinism (pale skin, hair and eye color).Causes, incidence, and risk factors Return to top
Waardenburg syndrome is inherited as an autosomal dominant trait; only one parent has to pass on the gene for a child to be affected. There are four types of this syndrome. (Type 3 is known as Klein-Waardenburg syndrome; Type 4 is Waardenburg-Shah syndrome.)
The multiple types of this syndrome result from mutations occurring in different genes. All types share two dominant features: hearing loss and partial albinism. The albinism is incomplete and may appear as a white forelock in an otherwise dark head of hair, very pale light-blue eyes, or two different colored eyes. Affected individuals may also have wide separation of the inner corners of the eyes, a broad nasal bridge, and other color changes of the skin.
Waardenburg syndrome affects about 1 in every 30,000 people. Almost 90% of patients have an affected parent but the symptoms in the parent can be quite different from those in the child.
Symptoms Return to top
Signs and tests Return to top
Examination may show various abnormalities, including:Treatment Return to top
No specific treatment is available for Waardenburg syndrome. Attention must be paid to any hearing deficits and hearing aids and appropriate schooling may need to be provided. Type 4 patients with constipation require special attention to their diet and medications to keep their bowels moving.Expectations (prognosis) Return to top
With correction of hearing deficits, affected people should be able to lead a normal life.Complications Return to top
Calling your health care provider Return to top
Genetic counseling may be helpful if you have family history of Waardenburg syndrome and plan to have children. Call for a hearing test if you or your child has deafness or decreased hearing.Prevention Return to top
Genetic counseling may be valuable for prospective parents with a family history of Waardenburg syndrome. Update Date: 8/6/2003 Updated by: Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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Page last updated: 28 October 2004 |