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

Klein-Waardenburg syndrome; Waardenburg-Shah syndrome

Waardenburg syndrome is inherited as an autosomal dominant trait, meaning only one parent has to pass on the faulty 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 main features: hearing loss and pigment (color) 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 or each a different color.

People with Type I may almost always have wide-set eyes. Hearing loss occurs more often in people with Type II than Type I.

The less common types of this disease may cause problems with the arms or intestines.

Almost 90% of people with this disease have a parent with the disease, but the symptoms in the parent can be quite different from those in the child.

Images

Sense of hearing

Broad nasal bridge

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Waardenburg syndrome Symptoms

Review Date: 08/26/2009
Reviewed By: Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)