What is Marfan syndrome?

Marfan syndrome is a genetic disorder that affects the body’s ability to make healthy connective tissue, which supports the bones, muscles, organs, and tissues in your body. The condition can affect different areas of the body, including:

  • Bones, ligaments, tendons, and cartilage.
  • Organs, such as the heart and lungs.
  • Skin.

Who gets Marfan syndrome?

Men, women, and children can have Marfan syndrome. It is found in people of all races and ethnic backgrounds.

What are the symptoms of Marfan syndrome?

The symptoms of Marfan syndrome vary from person to person because connective tissue is found throughout the body. Some people have mild or just a few symptoms, while others can have more serious problems. Symptoms may include:

  • Abdominal pain.
  • Arms, legs, fingers, and toes that are much longer in relation to the rest of the body.
  • Chest that caves in or sticks out.
  • Curved spine.
  • Flat feet.
  • Headaches.
  • Heartbeat that feels like it is skipping a beat, fluttering, or beating too hard or too fast.
  • Highly arched mouth that can lead to crowding of teeth.
  • Loose joints.
  • Long, narrow face.
  • Low back pain and numbness in the legs.
  • Shortness of breath due to changes in the lungs or heart.
  • Stretch marks on the skin.
  • Vision changes, such as blurry vision and extreme nearsightedness.

What causes Marfan syndrome?

A mutation or change in a gene causes Marfan syndrome. Most people inherit the changed gene from their parents, but some children are born with the syndrome, even though there is no family history of the disorder. This is caused by a new change in the gene.

Join a Clinical Trial

Related Information

View/Download/Order Publications