Marfan syndrome

Marfan syndrome clinical presentation


Fibrillin gene (FBN1) mutation on chromosome 5 – low strength collagen


1. Musculoskeletal:

  • Long extremities in relation to trunk
  • Pectus carinatum or pectus excavatum
  • Scoliosis
Marfan syndrome/ Pectus carinatum or pectus excavation

2. Orofacial:

  • Long narrow face
  • High arched palate
  • Dental crowding

3. Cardiovascular:

  • Mitral valve prolapse + medial necrosis of aorta – mitral and aortic regurgitation – aneurysm and heart failure

4. Optical:

  • Ectopia lentis
  • Myopia
  • Retinal detachment


  • Always use prophylaxis for infectious endocarditis
  • Annual ECG, ophthalmic review and scoliosis screening

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