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What Is Marfan Syndrome?

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The connective tissues in our bodies work to hold the body together and create a framework for growth and development. When the connective tissues become defective and do not act as they should, it could be the result of Marfan syndrome.

Since connective tissues are found throughout the body, Marfan syndrome can affect several of the internal systems, such as the skeleton, the eyes, the heart, the blood vessels, the nervous system, the skin, and the lungs.

Marfan syndrome is a condition that affects men, women, and children of all races and ethnic backgrounds. It has been estimated that approximately one in 5,000 people in the U.S. have this condition.

When Marfan syndrome affects the skeleton, people with this disorder are usually quite tall, slender, and have loose joints. Since it affects the long bones of the skeleton, those with Marfan syndrome may have arms, legs, fingers and toes that are disproportionately long with respect to the rest of the body.

A person affected with Marfan syndrome usually has a long, narrow face, and the roof of the mouth might be arched, which in turn can cause the teeth to be crowded. Other skeletal conditions that might arise from this disorder include either a protruding or indented breast bone, curvature of the spine, and flat feet.

Those with Marfan syndrome may also experience a dislocation of one or both lenses of the eye. They may have problems associated with their heart and blood vessels. They may have problems with their nervous system or develop stretch marks on the skin that have no relation to weight change. The disease can cause the tiny air sacs in the lungs to become less elastic, but most people with Marfan syndrome do not recognize significant problems with their lungs. If, however, the tiny air sacs become stretched or swollen, that can increase the risk of lung collapse.

Marfan syndrome is caused by a defect in the gene that determines the structure of fibrillin-1, an integral protein that plays a pivotal role in the connective tissues of the body. A person is born with this disorder, although it might not be diagnosed until much later in life.

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We value and respect our HERWriters' experiences, but everyone is different. Many of our writers are speaking from personal experience, and what's worked for them may not work for you. Their articles are not a substitute for medical advice, although we hope you can gain knowledge from their insight.