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Marfan’s syndrome

What is Marfan Syndrome ?  

A genetic disorder of connective tissue, involving defects of heart valves and aorta. The disease also affects the eyes, lungs, dural sac surrounding the spinal cord, skeleton and hard palate.

Cause(s) :  
  • Genetic mutations
Symptoms :  Skeletal system symptoms:
  • Above average height
  • Long limbs, fingers and toes
  • Weak and slender limbs and fingers and toes
  • Abnormal curvature of spine
  • Abnormal shape of the sternum (bones of the ribcage), stooped shoulders
  • Abnormal flexibility of joints
  • High hard palate (roof of mouth)
  • Malocclusions of feet, hammer toes
  • Early osteoarthritis
Symptoms affecting Eyes:
  • Shifting of lens from normal position
  • Weakness of ciliary zonules (the connective tissue strands that suspend the lens within the eye)
  • Nearsightedness and blurred vision
  • Risk of retinal detachment and early onset of cataract
Cardiovascular sysmptoms:
  • Fatigue, shortness of breath
  • Heart palpiations
  • Chest pain radiating to back, shoulder or arm
  • Prolapse of mitral or aortic valves
  • Dilated aorta or aortic aneurysm, aortic dissection (tear in the inner wall of aorta)
Symptoms of lungs:
  • Fluid accumulation in lungs
  • Cyanosis
  • Pathological changes in lungs such as emphysema, bullae, apical fibrosis
  • Middle lobe hypoplasia
Symptoms of central nervous system:
  • Widening of the dural sac that surrounds the spinal cord
  • Lower back pain, leg pain, abdominal pain
  • Degenerative disc disease, spinal cysts
Diagnosis and Tests :  
  • Family history
  • Clinical examination of four skeletal signs with one or more signs in eye or heart.
  • Ghent Nosology is a checklist and diagnostic tool for diagnosis of Marfan syndrome
Category :  Congenital Conditions

Specialist to consult :  Orthopaedics

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