Definition of Waardenburg syndrome:

Waardenburg syndrome is a group of conditions passed down through families that involve deafness and pale skin, hair, and eye color.

Causes, incidence, and risk factors:

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 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 defects in different genes. Most 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.

Symptoms:

Symptoms may include:

• Cleft lip (rare)
• Constipation
• Deafness(more common in type II disease)
• Extremely pale blue eyes or eye colors that don't match (heterochromia)
• Pale color skin, hair, and eyes (partial albinism)
• Difficulty completely straightening joints
• Possible slight decrease in intellectual function
• Wide-set eyes (in Type I)
• White patch of hair or early graying of the hair

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

Signs and tests:

Tests may include:

• Audiometry
• Bowel transit time
• Colon biopsy
• Genetic testing

Treatment:

There is no specific treatment. Symptoms will be treated as appropriate. Special diets and medicines to keep the bowel moving are prescribed to those patients who have constipation.

Expectations (prognosis):

Once hearing problems are corrected, most people with this syndrome should be able to lead a normal life. Those with rarer forms of the syndrome may have other complications.

Complications:

• Constipation severe enough to require part of large bowel to be removed
• Hearing loss
• Self-esteem problems, or other problems related to appearance
• Slight decreased intellectual functioning (possible, unusual)
• Slight increased risk for muscle tumor called rhabdomyosarcoma

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.