What Is Marfan Syndrome?


Quick Answer

Marfan syndrome is an inherited condition that causes damage to the body's connective tissue, according to Mayo Clinic. Because of this, people with Marfan syndrome often have trouble with their cardiovascular system, their skeletal system and their eyes.

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What Is Marfan Syndrome?
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Full Answer

Marfan syndrome is a fairly rare disorder that strikes about 1 in 5,000 people, according to the Marfan Foundation. It is caused by a defective gene that causes the body to make too much transforming growth factor beta. A person with Marfan syndrome has a 50 percent chance of passing on this defective gene when she has children.

People with Marfan syndrome tend to be tall and have unusually long appendages, claims Mayo Clinic. They have a curved spine and a chest that's either sunken or sticks out, according to the Marfan Foundation. They may have unusually flexible joints, teeth that crowd together and flat feet. Their skin may have stretch marks that aren't the result of fluctuations in weight.

Some signs of Marfan syndrome may not manifest until the person is an adult, according to the Marfan Foundation. These include heart conditions, especially those that strike the aorta, or eye problems like extreme nearsightedness, cataracts, glaucoma or a detached retina. However, there are some children with Marfan syndrome who are born with these problems.

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