Waardenburg Syndrome
DefinitionWaardenburg syndrome is a group of hereditary conditions characterized by deafness and partial albinism (pale skin, hair and eye color).
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Overview, Causes, & Risk Factors
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.
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