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Marfan Syndrome

An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE, dilation of the AORTA, and aortic dissection. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome is associated with mutations in the gene encoding fibrillin, a major element of extracellular microfibrils of connective tissue.

Year introduced: 1985

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Tree Number(s): C05.116.099.674, C14.240.400.725, C14.280.400.725, C16.131.077.550, C16.131.240.400.720, C16.320.540, C17.300.500

MeSH Unique ID: D008382

Entry Terms:

  • Syndrome, Marfan
  • Marfan Syndrome, Type I
  • Marfan's Syndrome
  • Marfans Syndrome
  • Syndrome, Marfan's

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