Klein-Waardenburg syndrome; Waardenburg-Shah syndrome

• Cleft lip (rare)
• Constipation
• Deafness
• Extremely pale blue eyes or eye colors that don't match (heterochromia)
• Possible difficulty with completely straightening joints (contracture)
• Possible slight decrease in intellectual function
• White patch of hair or early graying of the hair

Tests may include:

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

Images

Sense of hearing

Broad nasal bridge

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Waardenburg syndrome Overview

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Waardenburg syndrome Treatment

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)