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How is the body affected?

Marfan syndrome and related conditions affect the body’s connective tissue. Connective tissue holds the body together and plays a role in its growth and development. Because connective tissue is found throughout the body, Marfan syndrome and related disorders can affect many parts of the body, including the heart and blood vessels, bones and joints, eyes, skin, and lungs.

Below is a short summary of Marfan syndrome features. You can get more detailed information about the effects on each system by clicking on the links provided.

Heart and blood vessels (cardiovascular system)

  • Enlarged or bulging aorta, the main blood vessel that carries blood from the heart to the rest of the body (aortic dilation or aneurysm)
  • Separation of the layers of the aorta that can cause it to tear (aortic dissection)
  • “Floppy” mitral valve (mitral valve prolapse-MVP)

Bones and joints (skeletal system)

  • Long arms and legs
  • Tall and thin body type
  • Long, thin fingers
  • Curvature of the spine (scoliosis or kyphosis)
  • Chest sinks or sticks out
  • Flexible joints
  • Flat feet
  • High-arched palate
  • Teeth that are too crowded

Eyes (ocular system)

  • Severe nearsightedness (myopia)
  • Dislocated lens of the eye
  • Detached retina
  • Early glaucoma
  • Early cataracts


  • Sudden lung collapse
  • Emphysema
  • Asthma
  • Sleep apnea

Other body systems

  • Stretch marks on the skin that aren't explained by pregnancy or weight gain or loss
  • Swelling of the sac around the spinal column (dural ectasia, found with CT or MRI scans of the back)