Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly. About 1 in 5,000 people have Marfan syndrome, including men and women of all races and ethnic groups.
Marfan syndrome can affect many different parts of the body. Some features of Marfan syndrome are easier to see than others. These include: long arms, legs and fingers; tall and thin body type; curved spine; chest sinks in or sticks out; flexible joints; flat feet; crowded teeth; and stretch marks on the skin that are not related to weight gain or loss.
Harder-to-detect signs of Marfan syndrome include heart problems, especially those related to the aorta, the large blood vessel that carries blood away from the heart to the rest of the body. Other signs can include sudden lung collapse and eye problems, including severe nearsightedness, dislocated lens, detached retina, early glaucoma, and early cataracts. Special tests are often needed to detect these features.
An early, accurate diagnosis is essential, not only for people with Marfan syndrome, but also for those with related disorders. Knowing the signs of these conditions can save lives.
To learn more and for support visit www.marfan.org.