Marfan Syndrome

Marfan syndrome is an inherited disorder of the connective tissue that causes abnormalities of the patient’s eyes, cardiovascular system, and musculoskeletal system. Marfan syndrome is sometimes called arachnodactyly, which means “spider-like fingers”, since one of the characteristic signs of the disease is disproportionately long fingers and toes. It is estimated that one person in every 3000-5000 has Marfan syndrome, or about 50,000 people in the United States. Marfan syndrome is one of the more common inheritable disorders.
Marfan syndrome affects three major organ systems of the body: the heart and circulatory system, the bones and muscles, and the eyes. The genetic mutation responsible for Marfan syndrome was discovered in 1991. It affects the body’s production of fibrillin, which is a protein that is an important part of connective tissue. Fibrillin is the primary component that allow tissues to stretch repeatedly without weakening. Because the patient’s fibrillin is abnormal, his or her connective tissues are looser than usual, which weakens or damages the support structures of the entire body.

The most common external signs associated with Marfan syndrome include excessively long arms and legs, with the patient’s arm span being greater than his or her height. The fingers and toes may be long and slender, with loose joints that can be bent beyond their normal limits. This unusual flexibility is called hypermobility. The patient’s face may also be long and narrow, and he or she may have a noticeable curvature of the spine. It is important to note, however, that Marfan patients vary widely in the external signs of their disorder and in their severity; even two patients from the same family may look quite different. Most of the external features of Marfan syndrome become more pronounced as the patient gets older, so that diagnosis of the disorder is often easier in adults than in children. In many cases, the patient may have few or very minor outward signs of the disorder and the diagnosis may be missed until the patient develops vision problems or cardiac symptoms.