Marfan Syndrome
Marfan Syndrome is a connective tissue disorder that affects the body’s connective tissues. 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. Because connective tissue is found throughout the body, Marfan Syndrome can affect many different parts of the body, as well. Features of the disorder are most often found in the heart, blood vessels, bones, joints, and eyes. Some Marfan features – for example, aortic enlargement, can be life-threatening. The lungs, skin and nervous system may also be affected. Marfan syndrome does not affect intelligence.
People with Marfan syndrome are born with it, but features of the disorder are not always present right away. Some people have a lot of Marfan features at birth or as young children – including serious conditions like aortic enlargement. Others have fewer features when they are young and don’t develop aortic enlargement or other signs of Marfan syndrome until they are adults. Some features of Marfan syndrome, like those affecting the heart and blood vessels, bones or joints, can get worse over time
This makes it very important for people with Marfan syndrome and related disorders to receive accurate, early diagnosis and treatment. Without it, they can be at risk for potentially life-threatening complications. The earlier some treatments are started, the better the outcomes are likely to be. Knowing the signs of Marfan syndrome can save lives. Experts in this field estimate that nearly half the people who have Marfan syndrome don’t know it. This is something we are working hard to change.