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Townes-Brocks syndrome

Background

Townes-Brocks syndrome (TBS) is a rare genetic condition present at birth. The main features include ear anomalies leading to hearing loss and characteristic anal and thumb anomalies. The range and severity of these features vary from person to person. TBS affects males and females equally. Since 1972, when the condition was first described by Dr Townes and Dr Brocks, approximately 100 individuals worldwide have been reported with the syndrome. It is difficult to estimate the true incidence of TBS because there is a possibility that TBS is currently under diagnosed. On this basis, more individuals than reported may be affected with TBS.

What are the symptoms? View What are the symptoms?

Medical text written September 2003 by Contact a Family. Last reviewed July 2008 by Dr M Whiteford, Consultant Clinical Geneticist, Ferguson-Smith Centre for Clinical Genetics, Glasgow, UK.

 

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