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Common features of Marfan syndrome

NOTE: not all people with Marfan syndrome will have all of these features.

  • Myopia or nearsightedness - most common eye finding; can progress rapidly during childhood
  • Displacement of the lens (ectopia lentis), seen in 60% of individuals with Marfan syndrome, is a hallmark feature
  • Increased risk for retinal detachment, glaucoma, and early cataract formation
  • Glasses
    • Many eye problems can be managed with glasses
Skeletal system
  • Bone overgrowth
    • Tall and thin
    • Extremities (arms and legs) are disproportionately long for size of trunk
    • Overgrowth of ribs
      • Overgrowth of the ribs can either push sternum (breastbone) in (pectus excavatum); or push sternum (breastbone) out (pectus carinatum)
      • May require surgery to repair the chest wall deformity
    • Long, thin fingers
    • Scoliosis which may be mild to severe and progressive
  • Facial features
    • Long narrow face with deeply set eyes
    • Down slanting eyes
    • Flat cheekbones
    • Small and receding chin
  • Dental issues due to high arched palate, and dental crowding
  • Joint laxity (flexible joints)
  • Flat feet
    • Orthotics and arch supports can lessen leg fatigue and muscle cramps associated with flat feet
Cardiovascular manifestations (~90%)
  • These can be severe and may require medications; this needs to be monitored.
  • Dilatation of the aorta – an enlargement of the major blood vessel coming from the heart
  • Predisposition for aortic tear and rupture
  • Mitral valve prolapse, tricuspid valve prolapse (floppy heart valves)
  • May need prophylactic antibiotics with dental work

Other features which may occur

  • Hernias
  • Stretch marks that occur without major weight gain or loss
Pulmonary issues
  • Sudden collapse of the lung (Pneumothorax)
  • Asthma
  • Sleep apnea
  • Pectus excavatum (indented breast bone) and scoliosis may reduce lung capacity
    • Lead to shortness of breath and fatigue
  • Widening or ballooning of the membrane (dural sac) surrounding the spinal cord (dural ectasia)
  • Can cause headaches, back/abdominal/leg pain
  • These sometimes occur