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Marfan Syndrome

The condition is named after a French paediatrician, Antoine Marfan, who in 1896 described a 5-year-old girl whose arms, legs, fingers and toes were disproportionately long and thin, whose muscle development was poor, and whose spine curved abnormally. Subsequent physicians described other patients with similar skeletal changes as well as eye problems. By the early part of the Twentieth Century, as a form of medical shorthand, Marfan's name became commonly used to refer to individuals who seemed to be affected by this condition. The term "syndrome" refers to the fact that a group of physical signs or changes occur together often enough for a pattern to be recognized.

There are over 200 different heritable disorders of connective tissue, including a few which closely resemble the Marfan syndrome. They are termed "heritable" because all have their basis in a change (mutation) in one gene or another and, because relatives have genes in common, these conditions may affect more than one person in a family. Not all are inherited in the same pattern as the Marfan syndrome.