The Holt-Oram syndrome.

Abstract

The classical description of this syndrome of upper limb abnormalities and congenital heart lesions was by Holt and Oram in 1960.1 They were from King's College Hospital in London and reported a four generation family with nine affected subjects. Many other families were then recognised to have the same condition, which led to a series of reports in the early 1960s. The names atriodigital dysplasia, the hearthand syndrome, the upper limb-cardiovascular syndrome, the cardiac-limb syndrome, and the cardiomelic syndrome were suggested, but it is the HoltOram syndrome that has remained in common use. There have been over 200 cases published and it is found throughout the world. A genetics department in the UK near a cardiology referral centre may expect to see a new family about once every two years.