Ghent diagnostic nosology
| System | Major criterion | Involvement |
|---|---|---|
| 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 | ||
| Skeletal | At 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 | ||
| Ocular | Lens dislocation (ectopia lentis) | Flat cornea |
| Increased axial length of globe (causing myopia) | ||
| Hypoplastic iris or ciliary muscle (causing decreased miosis) | ||
| Cardiovascular | Dilatation of the aortic root | Mitral valve prolapse |
| Dissection of the ascending aorta | Dilatation of the pulmonary artery, below age 40 | |
| Calcified mitral annulus, below age 40 | ||
| Other dilatation or dissection of the aorta | ||
| Pulmonary | None | Spontaneous pneumothorax |
| Apical blebs | ||
| Skin/integument | None | Striae atrophicae |
| Recurrent or incisional hernia | ||
| Dura | Lumbosacral dural ectasia | None |
| Genetic findings | Parent, child or sibling meets these criteria independently | None |
| Fibrillin 1 mutation known to cause Marfan syndrome | ||
| Inheritance of DNA marker haplotype linked to Marfan syndrome in the family | ||