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Waardenburg syndrome

Alternative Names

Klein-Waardenburg syndrome; Waardenburg-Shah syndrome

Treatment

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.

Outlook (Prognosis)

Once hearing problems are corrected, most persons with this syndrome should be able to lead a normal life. However, those with rarer forms of the syndrome may have additional problems, which can affect their prognosis.

Possible Complications

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

When to Contact a Medical Professional

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: 7/1/2007
Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of HumanGenetics, New York, NY. Review provided by VeriMed Healthcare Network.

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