Bardet-Biedl Syndrome is a rare inherited condition most commonly found in the Middle East and in island communities like Newfoundland, where the incidence is 1 in 13,500 of the population (supposedly due to higher consanguinity). Elsewhere, the figure is more like 1 in 100,000. The number is rising, as this condition is under-diagnosed.

It is named after Drs. George Bardet and Artur Biedl, who in the 1920s separately observed links between hypothalamic obesity, retinitis pigmentosa, polydactyly, and intellectual impairment.

Characteristic symptoms include:

To make the diagnosis, four out of five of these features are generally required. In addition, there are other characteristics which should be taken into account:


Resources:
http://www.nlm.nih.gov/
http://www.cafamily.org.uk/

Log in or registerto write something here or to contact authors.