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Waardenburg Syndrome
DefinitionWaardenburg syndrome is a group of hereditary conditions characterized by deafness and partial albinism (pale skin, hair and eye color).
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Overview, Causes, & Risk Factors
Waardenburg syndrome is inherited as an autosomal dominant trait; only one parent has to pass on the gene for a child to be affected. There are four types of this syndrome. (Type 3 is known as Klein-Waardenburg syndrome; Type 4 is Waardenburg-Shah syndrome.)
The multiple types of this syndrome result from mutations occurring in different genes. All types share two dominant features: hearing loss and partial albinism. The albinism is incomplete and may appear as a white forelock in an otherwise dark head of hair, very pale light-blue eyes, or two different colored eyes. Affected individuals may also have wide separation of the inner corners of the eyes, a broad nasal bridge, and other color changes of the skin.
Waardenburg syndrome affects about 1 in every 30,000 people. Almost 90% of patients have an affected parent but the symptoms in the parent can be quite different from those in the child.
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• Definition
• Overview, Causes, & Risk Factors
• Symptoms & Signs
• Prevention
• Diagnosis & Tests
• Treatment
• Prognosis
• Complications
• Calling Your Health Care Provider
• Pictures & Images
Topics that might be of interest to you Diseases & Conditions
• Albinism
Tests & Exams
• Audiology
Other Topics
• Autosomal Dominant
• Broad Nasal Bridge
• Genetic Counseling and Prenatal Diagnosis
• Hearing Loss
• Heterochromia
• Lateral
Review Date : 8/6/2003
Reviewed By : Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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