Revised diagnostic criteria for the Marfan syndrome

A. De Paepe, R. B. Devereux, H. C. Dietz, R. C.M. Hennekam, R. E. Pyeritz

Research output: Contribution to journalReview articlepeer-review

1276 Scopus citations


In 1986, the diagnosis of the Marfan syndrome was codified on the basis of clinical criteria in the Berlin nosology [Beighton et al., 1988]. Over time, weaknesses have emerged in these criteria, a problem accentuated by the advent of molecular testing. In this paper, we propose a revision of diagnostic criteria for Marfan syndrome and related conditions. Most notable are: more stringent requirements for diagnosis of the Marfan syndrome in relatives of an unequivocally affected individual; skeletal involvement as a major criterion if at least 4 of 8 typical skeletal manifestations are present; potential contribution of molecular analysis to the diagnosis of Marfan syndrome; and delineation of initial criteria for diagnosis of other heritable conditions with partially overlapping phenotypes

Original languageEnglish (US)
Pages (from-to)417-426
Number of pages10
JournalAmerican journal of medical genetics
Issue number4
StatePublished - 1996
Externally publishedYes


  • Marfan syndrome
  • aortic aneurysm
  • diagnosis
  • dural ectasia
  • ectopia lentis
  • heritable disorders of connective tissue
  • mitral valve prolapse

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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