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Broad nasal bridge
Broad nasal bridge
Sense of hearing
Sense of hearing


Waardenburg syndrome

Definition:

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:

Waardenburg syndrome is inherited as an autosomal dominant trait, meaning only 1 parent has to pass on the gene for a child to be affected. There are 4 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 2 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 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.




Review Date: 4/20/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2004 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

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