Waardenburg syndrome

Definition

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

Causes

Waardenburg syndrome is most often inherited as an autosomal dominant trait. This means 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 rarer.

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:

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

Exams and Tests

Tests may include:

Treatment

There is no specific treatment. Symptoms will be treated as needed. Special diets and medicines to keep the bowel moving are prescribed to those people who have constipation. Hearing should be checked closely.

Outlook (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.

Possible Complications

Complications may include:

When to Contact a Medical Professional

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


Review Date: 8/6/2017
Reviewed By: Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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