Marfan Syndrome

What is Marfan Syndrome?

Marfan syndrome is a genetic disorder that affects the body’s connective tissue. 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.


Connective tissue is made up of proteins. The protein that plays a role in Marfan syndrome is called fibrillin-1. Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1. 


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 can be life threatening such as, aortic enlargement (expansion of the main blood vessel that carries blood away from the heart to the rest of the body). The lungs, skin and nervous system may also be affected. Marfan syndrome does not affect intelligence. People with Marfan syndrome are usually tall and thin, with disproportionately long arms, legs, fingers and toes.

Every person’s experience with Marfan syndrome is slightly different. No one has every sign or symptom and people have different combinations of signs and symptoms. Some features of Marfan syndrome are fairly easy to see than others which are not visible to casual observers.

Diagram showing various effects of marfan's syndrome - chest, fist, elbows, spine, vertebrae.

Signs and symptoms include:

  • Long arms, legs and fingers

  • Tall and thin body type

  • Chronic fatigue

  • Joint pain

  • Curved spine

  • Chest sinks in or sticks out

  • Flexible joints

  • Flat feet

  • Crowded teeth

  • Stretch marks on the skin that are not related to weight gain or loss

  • Mitral valve prolapse

  • Aortic Enlargement

  • Aortic Regurgitation 

  • Severe nearsightedness (myopia)

  • Dislocated lens of the eye

  • Sudden lung collapse

  • Emphysema

  • Asthma

  • Sleep apnea

  • Detached Retina

  • Early glaucoma

  • Early cataracts

To learn more about Marfan Syndrome visit


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