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What Marfan syndrome is and easy way to remember important marfan syndrome features with this Marfan syndrome Mnemonic “MARFANS

Marfan syndrome is an inherited disorder of connective tissue (connective tissue supports and anchors our organs and other structures in our body). Marfan syndrome most commonly affects the eyes, heart, blood vessels and skeletal system.

Important marfan syndrome features:

  • Autosomal dominant (with variable expression)
  • FBN1 gene mutation on chromosome 15, defective fibrillin-1 
  • Tall with long extremities
  • Chest wall deformity (pectus carinatum [pigeon chest] or pectus excavatum
  • Hypermobile joints; long, tapering fingers and toes (arachnodactyly)
  • Cystic medial necrosis of aorta; aortic root aneurysm rupture or dissection (most common cause of death); mitral valve prolapse 
  • Subluxated lense, retinal detachment
  • Negative Nitroprusside test (+ve in Homocystinuria)

Remember all the features with this Marfan syndrome Mnemonic: “MARFANS

Mitral valve prolapse (Medial necrosis of Aorta)

Aortic aneurysm

Retinal detachment

Fibrillin defect (FBN1 gene mutation on Ch. Fifteen)


Negative Nitroprusside test (+ve in Homocystinuria)

Subluxated lense

You can also remember this way:

M: mitral valve prolapse

A: aortic dissection / aortic aneurysm

R: regurgitant aortic valve / retinal detachment

F: fibrillin-1 mutation

A: arm span > height / arachnodactyly

N: near-sightness / nasal voice (high-arched palate)

S: scoliosis / subluxated lens

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