Marfan Syndrome

Autosomal dominant

1:3000-5000

Marfan syndrome is characterised by excessively long arms (an arm span that exceeds their height) and legs and often long narrow faces. However, there most serious complications involving the heart and major blood vessels. This disease results from mutations in fibrillin protein that normally allows tissues to stretch repeatedly without weakening.

As this disorder can lead to increased height and lengthened arms, many sufferers become involved in sports such as basketball and volleyball. But this disorder can prove fatal, especially during physical activity. Flo Hyman, considered the best female volleyball player in the world, collapsed and died shortly after a game, with a subsequent autopsy revealing that she had Marfan’s syndrome.

Another characteristic sign Marfan syndrome is disproportionately long fingers and toes. Sergei Rachmaninov, who is widely suspected to have had this, is said to have had one of the widest hand spans of any pianist. He was able to cover a twelfth with his left hand - a span of approximately 12 inches from his little finger to his thumb – well over the length of an A4 page!

Marfan’s syndrome has also been linked to Charles de Gaulle and

Osama bin Laden, who was unusually tall for his family with a curved spine and narrow face suggestive of Marfan’s syndrome. Furthermore, it was reported that he may have had heat problems.

Abraham Lincoln is been suggested to have had Multiple endocrine neoplasia type 2b, another genetic disorder with some similarities to Marfan’s syndrome though also resulting in tumours of the mouth and eyes. Indeed Lincoln did have the marfan-like body shape, large, bumpy lips a strange "mole" on his right cheek, and drooping eyelid. It is possible that his sons Eddie, Willie, and Tad, and his mother aso showed this dominantly inherited disorder.