Waardenburg syndrome

Waardenburg syndrome is most often inherited as an autosomal dominant trait. This means only one parent needs to pass on the altered gene for a child to have this condition.

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 less common.

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 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.

Tests may include:

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

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 carefully.

Once hearing problems are addressed, 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 may include:

• 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)

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

Klein-Waardenburg syndrome; Waardenburg-Shah syndrome

Cipriano SD, Zone JJ. Neurocutaneous disease. In: Callen JP, Jorizzo JL, Zone JJ, Piette WW, Rosenbach MA, Vleugels RA, eds. Dermatological Signs of Systemic Disease. 5th ed. Philadelphia, PA: Elsevier; 2017:chap 40.

Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Defects in metabolism of amino acids. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 103.

National Center for Advancing Translational Sciences. Genetic and Rare Diseases Information Center website. Waardenburg syndrome. rarediseases.info.nih.gov/diseases/5525/waardenburg-syndrome. Updated February 2023. Accessed September 22, 2023.

Updated by: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.