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Table 1 Ghent Diagnostic Criteria for Marfan Syndrome – Ho[10].

From: The differential diagnosis of children with joint hypermobility: a review of the literature

System Major criteria Minor criteria
Skeletal system Pectus carinatum
Pectus excavatum requiring surgery
Reduced upper to lower segment ratio or arm span to height ratio >1.05
Positive wrist and thumb signs
Scoliosis of >20° or spondylolisthesis
Reduced extension of the elbows (<170°)
Medial displacement of the medial malleolus causing pes planus
Pectus excavatum of moderate severity
Joint hypermobility
High arched palate with dental crowding
Facial appearance (dolichocephaly, malar hypoplasia, enophalmous, retrognathia, and down slanting palpebral fissures)
Ocular System Ectopia lentis Abnormally flat corneas
Increased axial length of globe
Hypoplastic iris or cillary muscles causing decreased miosis
Cardiovascular system Dilation of the ascending aorta with or without aortic regurgitation and involving the sinuses of valsalva
Dissection of the ascending aorta
Mitral valve prolapse with or without mitral valve regurgitation
Dilatation of the main pulmonary artery
Pulmonary system None Spontaneous pneumothorax
Apical blebs (shown on chest radiograph)
Skin and integument Lumbosacral dura ectasia by CT or MRI Stretch marks
Recurrent or incisional herniae
Family history Having a parent, child or sibling with either:
-presence of a mutation in FBN1known to cause Marfans syndrome
or
-presence of a haplotype around FBN1, inherited by descent, known to be associated with Marfan syndrome in the family.
 
  1. For the proband the diagnosis requires the presence of major criteria in at least two organ systems and involvement of a third organ system. For a family member, diagnosis requires the presence of one major criterion in family history and one major criterion in an organ system and involvement of a second organ system.