Ency. home > Disease > W > Waardenberg syndrome

Waardenberg syndrome    See images

Overview | Symptoms | Treatment | Prevention

Alternative names:

Waardenberg syndrome types 1-4; Type 3 = Klein-Waardenberg syndrome; Type 4 = Waardenburg-Shah syndrome

Definition:

A group of heritable conditions, which include deafness and partial albinism (pale skin, hair and eye color) as their most important features.

Causes and Risks

Waardenberg syndrome is inherited as an autosomal dominant trait; only one parent has to pass on the gene for a child to be affected. 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 (heterochromia). Other findings that may be seen include wide separation of the inner corners of the eyes with a broad nasal bridge and other pigmentary changes of the skin.

Waardenburg syndrome affects about 1 in 30,000 people.  Almost 90% of patients have an affected parent but the manifestations of the condition in the parent can be quite different from those in the child.

Ency. home > Disease > W > Waardenberg syndrome

---

[an error occurred while processing this directive]