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
- 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
- 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
- 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