Marfan syndrome

Marfan syndrome is a genetic disease which affects the body's connective tissues.  The most noticeable symptom is long slender bones, particularly in the arms, legs and fingers.  It is caused by a faulty gene on chromosome 15 and a person who inherits the faulty gene from either parent will develop the condition.  The symptoms can range widely from mild to severe.  Although it can cause several dehabilitating and chronic  conditions of the heart, lungs, eyes and nerves.  Marfan patients are at a much higher risk of sudden death from aortic dissection  as the disease also can cause the major blood vessels to develop abnormally.
Alhthough there are well developed diagnostic criteria for Marfan, establishing a definitive diagnosis means ruling out dozen of other conditions that can lead to a similar body shape, including such mundane things as above average height.  
Marfan is incurable, but once a diagnosis is established, physicians can be on the lookout for the beginning of many issues and take preventative and maintenance steps to improve their quality of life.  As a result, the average life span of Marfan patients has been growing over the past several decades.
Marfan syndrome at Wikipedia
Marfan syndrome
Category:Genetics