Waardenburg syndrome

Definition

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

Alternative Names

Klein-Waardenburg syndrome; Waardenburg-Shah syndrome

Causes

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

There are four main types of Waardenburg syndrome.

The most common types are Type I and Type II.

Type III (Klein-Waardenburg syndrome) and type IV (Waardenburg-Shah syndrome) are more rare.

The multiple types of this syndrome result from mutations occurring in different genes. All types share two dominant features: hearing loss and pigment (coloring) changes in the skin, hair, and eyes. A white patch of hair may appear in an otherwise dark head of hair. Eyes may be very pale light-blue eyes or different colored. Persons with Type I may almost always have wide separation of the inner corners of the eyes. Hearing loss occurs more often in persons with Type II than Type I.

The more rare types of this disease may cause problems with the arms or intestines.

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.