A to Z of syndromes
A-Z of syndromes: Waardenburg syndrome
Waardenburg syndrome is a genetic disorder that gives people a distinctive appearance
Waardenburg syndrome is a genetic disorder that gives people a distinctive appearance
Waardenburg syndrome is a rare genetic disorder characterised by deafness and unusual pigmentation of the skin, hair and eyes. It may also be associated with musculoskeletal defects and Hirschsprung’s disease. It was first described by a Dutch physician in the 1940s and its diagnostic criteria were defined in 1992.
The most common mode of inheritance is by an autosomal dominant gene. This means that if one parent has the condition, there is a 50% chance that a child will be affected. Although it is usually passed on from a parent, gene mutations can also result in new cases.
- RELATED: Biological basis of child
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