What is Marfan syndrome?

Marfan syndrome is a genetic disorder that causes the connective tissue in the body to weaken. It can cause many serious health issues that affect the heart, lungs, eyes, joints, bones and teeth. In most cases, it’s caused by a defective gene passed down from parent to child. But it can also occur when the gene mutates spontaneously for no apparent reason.


Children with Marfan syndrome often have specific physical traits that may become more noticeable as a child grows. These traits can include:

  • long arms, legs, fingers and toes
  • flexible joints
  • short torso
  • long, narrow face
  • a chest that sinks in or sticks out
  • a spine that curves to one side (scoliosis)
  • overly crowded teeth
  • flat feet


It’s often hard to diagnose in children because most symptoms don’t appear until the child is a teen or older. A genetic test is available but is not 100 percent accurate at this point.

If Marfan syndrome runs in your family, you can have prenatal tests to find out if your baby will have the condition.


There is no cure for Marfan syndrome. But treatments for the various problems it can cause can help delay or prevent complications, especially when started early.

Learn more about Pediatric Cardiology services at Boston Children’s Health Physicians.

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