Waardenburg syndrome

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Broad nasal bridge

Sense of hearing

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; only one parent has to pass on the gene for a child to be affected. There are four 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 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. 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.

Symptoms:

family history of parent with Waardenburg syndrome
extremely pale blue eyes or eye colors don't match (heterochromia)
white forelock of hair or early graying of the hair
deafness (variable degree)
possible slight decrease in intellectual functioning
occasional cleft lip
constipation may occur
may have difficulty with completely straightening joints (contracture)

Signs and tests:

Examination may show various abnormalities, including:

lateral displacement of inner canthi (corners of eye)
eyebrows flare in the midline
broad nasal bridge
deafness (may or may not be present)
pale to white portions of eye including back of the eye
small or under-developed bones of the face
white patches of skin

Tests:

audiometry (hearing evaluation)
genetic testing of the PAX3 gene on chromosome 2q35
genetic testing of the MITF gene (type 2 Waardenburg syndrome) on chromosome 3p13
tests may show that stool doesn't move through the large bowel normally
biopsy of the colon may show no neural ganglia (Hirschsprung disease) in type 4 patients
genetic testing of the endothelin-3, endothelin receptor B or SOX10 gene in patients with Waardenburg syndrome type 4.

Treatment:

No specific treatment is available for Waardenburg syndrome. Attention must be paid to any hearing deficits and hearing aids and appropriate schooling may need to be provided. Type 4 patients with constipation require special attention to their diet and medications to keep their bowels moving.

Expectations (prognosis):

With correction of hearing deficits, affected people should be able to lead a normal life.

Complications:

hearing loss
self esteem or other problems related to cosmetic appearance
constipation may be severe requiring part of large bowel to be removed
slight increased risk for muscle tumor called rhabdomyosarcoma
slight decreased intellectual functioning (possible, unusual)

Calling your health care provider:

Genetic counseling may be helpful if you have family history of Waardenburg syndrome and plan to have children. Call for a hearing test if you or your child has deafness or decreased hearing.

Prevention:

Genetic counseling may be valuable for prospective parents with a family history of Waardenburg syndrome.

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