November 18, 2003

Holt-Oram

Holt-Oram syndrome, also called heart-hand syndrome, is an inherited disorder that causes abnormalities of the upper limbs and heart. About one in 100,000 people are affected. Affected individuals may have malformed thumbs and/or arms on one or both sides. About 70% have congenital heart defects. Holt-Oram is inherited in an autosommal dominant fashion, although most are due to new mutations. This disorder is caused by mutations in the TBX5 gene on chromosome 12q.

Posted by emily at 03:17 PM