Table 1

Ghent diagnostic nosology

SystemMajor criterionInvolvement
Having one of the features listed constitutes a major criterion or system involvement for all systems except the skeletal system, where more than one feature is needed.
ULSR, upper to lower segment ratio
SkeletalAt least 4 of the following features:2 of the major features, or 1 major feature and 2 of the following:
▸ pectus carinatum▸ pectus excavatum
▸ pectus excavatum requiring surgery▸ joint hypermobility
▸ ULSR < 0.86 or span:height >1.05▸ high palate with dental crowding
▸ wrist and thumb signs▸ characteristic face
▸ scoliosis > 20° or spondylolisthesis
▸ reduced elbow extension (<170°)
▸ pes plenus
▸ protrusio acetabulae
OcularLens dislocation (ectopia lentis)Flat cornea
Increased axial length of globe (causing myopia)
Hypoplastic iris or ciliary muscle (causing decreased miosis)
CardiovascularDilatation of the aortic rootMitral valve prolapse
Dissection of the ascending aortaDilatation of the pulmonary artery, below age 40
Calcified mitral annulus, below age 40
Other dilatation or dissection of the aorta
PulmonaryNoneSpontaneous pneumothorax
Apical blebs
Skin/integumentNoneStriae atrophicae
Recurrent or incisional hernia
DuraLumbosacral dural ectasiaNone
Genetic findingsParent, child or sibling meets these criteria independentlyNone
Fibrillin 1 mutation known to cause Marfan syndrome
Inheritance of DNA marker haplotype linked to Marfan syndrome in the family