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Marfan Syndrome

Marfan syndrome is a genetic disorder that affects the connective tissue present throughout your body.

It is caused by a mutation in a gene called fibrillin-1 (FBN1). This gene tells your cells how to make fibrillin, a protein that is a part of the connective tissue that protects your organs, stores energy and allows your skin to return to its original position after being stretched.

Connective tissue is present in your eyes, skin, lungs, blood vessels, spinal cord and skeletal system. When something goes wrong with fibrillin-1, these structures are not as strong and serious problems can arise.

Symptoms of Marfan syndrome can include:

  • Dislocated lenses in the eyes
  • Enlarged aorta
  • Scoliosis
  • Sunken or protruding chest
  • Tall and skinny
  • Long arms and legs

Marfan syndrome occurs in one of every 5,000 births, according to the National Institutes of Health. About 75 percent of the time, the mutated gene is inherited from a parent with the condition.

This is an age-related disorder, which means you are more likely to develop symptoms as you get older. There are detailed criteria for making a Marfan syndrome diagnosis, and you must have two or more findings to be considered to have the syndrome. 

When you are diagnosed with Marfan syndrome, you are at risk for serious cardiovascular (heart) conditions. You may also have problems with your eyes or skeletal health. We know how to help you monitor and manage your health in the many areas of the body impacted by this condition.

At Indiana University Health Medical Genetics, we operate the only clinics in the state dedicated to Marfan syndrome. Through our clinic at Riley Hospital for Children at Indiana University Health, we deliver diagnosis and multidisciplinary treatments to children and adults, including genetic counseling and testing.

At Indiana University Health Medical Genetics we have on staff the geneticists and physicians who established a Marfan Syndrome Program in 2005 to provide excellent care to you and your family, facilitate research, and increase public and professional knowledge of the disorder.

How We Can Help

How We Can Help

Marfan Syndrome Treatment Information

Living with Marfan syndrome means paying special attention to your heart, eye and skeletal health. IU Health Medical Genetics physicians and genetic counselors act as your primary care providers, collaborating with other doctors on a care program that maximizes your quality of life. 

Cardiovascular Health

Below are possible heart conditions you are at risk for due to Marfan syndrome and their available treatment options.

Eye Health

Marfan syndrome can affect the eyes. Below are possible conditions that may arise and treatment options.

Skeletal Health

Marfan syndrome causes problems in the bones and joints. Listed here are treatments and descriptions for the skeletal conditions that occur when bones grow extra-long or the connective tissue that holds joints together is too stretchy.


Marfan Syndrome Locations & Physicians

Use the search options below to find treatments available in your area.

Find a Specialist

Enter a Zip Code to find a specialist at IU Health.


Marfan Syndrome Support Services

Learn more about Marfan syndrome treatments at these websites: