Waardenburg syndrome

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.

In this article

What are the symptoms of Waardenburg syndrome?

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).

What are the causes of Waardenburg syndrome?

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.

How is Waardenburg syndrome diagnosed?

Diagnosis will be made based on common symptoms being present.

How is Waardenburg syndrome treated?

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.

Inheritance patterns and prenatal diagnosis

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.

Is there support?

There is no support group for Waardenburg syndrome in the UK.

If your child is affected by a medical condition or disability, we can help. Call our freephone helpline on 0808 808 3555 to get information, support and advice. We also offer emotional support for parents via our Listening Ear service.

We have a range of parent guides on aspects of caring for a disabled child in our resource library. You may also find our Early Years Support useful, which contains links to parent carer workshops and help for families going through the diagnosis process.

You can also meet other parents online in our closed Facebook group.

Credits

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

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.