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Waardenburg syndrome

Overview

Waardenburg syndrome (WS) is a genetic condition that causes hearing impairment (see entry Deafness) from birth, colour changes in the iris of the eye, hair, and skin, and a characteristic facial appearance. Some individuals may have a white forelock (white lock of hair growing above the forehead) and slightly widely spaced eyes as well as different coloured eyes (usually one blue and one brown). Infrequently, WS may be associated with other conditions such as congenital heart disease (such as a 'hole in the heart') or the gastrointestinal problems of Hirschsprung's disease. Four main types of WS exist based upon detection of the change (mutation) in the causative gene. Diagnosis will be made based on common symptoms being present. No specific management is available for Waardenburg syndrome. Attention must be paid to any hearing loss, and hearing aids and appropriate schooling may be needed. Special diets and medicines to keep the bowel moving are required by those who have constipation. The different types of WS 1-4 may be inherited in different ways based on the causative gene. Affected families should be referred to a genetics centre for information and support.

This overview is intended to be a basic description of the condition. It is not intended to replace specialist medical advice. We advise that you discuss your child's case with a qualified medical professional who will be able to give you more detailed information.

Credits

Medical text approved January 2012 by Dr Adam Shaw, Contact a Family Medical Advisory Panel.

Is there support?

There is no support group for Waardenburg syndrome in the UK. Families can use Contact a Family's freephone helpline for advice, information and, where possible, links to other families. Contact a Family's web-based linking service MakingContact.org can be accessed at community.cafamily.org.uk

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