Waardenburg syndrome

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Broad nasal bridge

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.

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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.