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Ghent nosology of Marfan's syndrome

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

The Ghent nosology, defining the major criteria, is described.For diagnosis of Marfan's syndrome, major findings are required in two out of the three main systems affected (heart; eyes; skeleton) as well as involvement of a third organ system. Very few patients match up to these strict criteria.

Skeletal system (four or more of)

  • Pectus carinatum
  • Pectus excavatum
  • Span to height >1.05
  • Wrist and thumb signs
  • Scoliosis >20°
  • Elbow extension <170°
  • Pes planus
  • Protrusio acetabulae

Dura

  • Lumbosacral dural ectasia by CT or MRI

Ocular system

  • Ectopia lentis

Cardiovascular system

  • Dilatation of ascending aorta involving at least sinuses of Valsalva
  • Dissection of ascending aorta
  • Family/genetic history
  • First degree relative with Marfan's syndrome
  • Presence of FBN-1 mutation

For index case: Diagnosis requires major criteria in at least two different organ systems and involvement of a third organ system

For a relative of an index case: Major criterion in one organ system and involvement of a second organ system

Reference:

  1. ARC (February 2005). Topical Reviews - Heritable Collagen Disorders.

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