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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; AORTIC ANEURYSM; and AORTIC DISSECTION. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue. Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2.

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:

  • Marfan's Syndrome
  • Marfans Syndrome
  • Marfan Syndrome Type 2
  • Marfan Like Connective Tissue Disorder
  • Marfan Syndrome, Type II
  • Marfan Syndrome Type 1
  • Marfan Syndrome, Type I

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