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Marfan syndrome

Disease definition

Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations.


Classification level: Disorder
  • Synonym(s):
    • MFS
  • Prevalence: 1-5 / 10 000
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: Q87.4
  • OMIM: 154700  610168
  • UMLS: C0024796
  • MeSH: D008382
  • GARD: -
  • MedDRA: 10026829
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