Waardenburg syndrome

• A
• B
• C
• D
• E
• F
• G
• H
• I
• J
• K
• L
• M
• N
• O
• P
• Q
• R
• S
• T
• U
• V
• W
• X
• Y
• Z

Broad nasal bridge

Sense of hearing

Waardenburg syndrome is a group of hereditary conditions characterized by deafness and partial albinism (pale skin, hair, and eye color).

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: 04/20/2005
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.