Waardenburg syndrome

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Broad nasal bridge

Sense of hearing

Klein-Waardenburg syndrome; Waardenburg-Shah syndrome

No specific treatment is available for Waardenburg syndrome. Attention must be paid to any hearing deficits, and hearing aids and appropriate schooling may be needed. Special diets and medicines to keep the bowel moving are prescribed to type IV patients who have constipation.

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 additional problems, however, which can lead to complications.

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• 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

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.

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).