The Ghent nosology for diagnosing Marfan syndrome
| Major criterion | Minor criterion | Diagnosis | |||
|---|---|---|---|---|---|
| Skeletal system | |||||
| Pectus carinatum | □ | Pectus excavatum not requiring surgery | □ | Major criterion (⩾4 of the major criteria) | □ |
| Pectus excavatum that requires surgery Upper to lower segment ratio <0.85 or arm-span to height ratio >1.05 Positive wrist and thumb sign | □ □ □ | Joint hypermobility High-arched palate with crowding of teeth Facial features (⩾2): | □ □ | Skeletal involvement (2 of the major criteria or 1 of the major and 2 of the minor criteria) | □ |
| Medial displacement of the medial malleolus causing pes planus Scoliosis >20° or spondylolisthesis | □ □ | Dolichocephaly Malar hypoplasia Enophthalmos | □ | ||
| Extension at elbows <170° Protrusio acetabuli of any degree | □ | Retrognathia | |||
| Down-slanting palpebral fissures | |||||
| Ocular system | |||||
| Ectopia lentis of any degree | □ | Flat cornea | □ | Major criterion | □ |
| Increased axial length of the globe (>23.5 mm) | □ | Ocular involvement (⩾2 minor criteria) | □ | ||
| Hypoplastic ciliary muscle causing decreased miosis | □ | ||||
| Cardiovascular system | |||||
| Aneurysm of the ascending aorta involving at least the sinuses of Valsalva | □ | Mitral valve prolapse (irrespective of mitral regurgitation) | □ | Major criterion | □ |
| Dissection of the ascending aorta | □ | Dilatation of the main pulmonary artery <40 years of age (unassociated with pulmonic stenosis) | □ | Cardiovascular involvement (⩾1 minor criterion) | □ |
| Calcification of the mitral annulus <40 years of age | □ | ||||
| Dilatation or dissection of the descending thoracic or abdominal aorta <50 years of age | □ | ||||
| Pulmonary system | |||||
| Spontaneous pneumothorax | □ | Organ involvement (⩾1 minor criteria) | □ | ||
| Apical blebs (radiography) | □ | ||||
| Skin and integument | |||||
| Striae distensae | □ | ||||
| Recurrent or incisional hernia | □ | ||||
| Dura | |||||
| Lumbosacral dural ectasia | □ | Major criterion | □ | ||
| Family and genetic history | |||||
| First-degree relative who independently meets Marfan criteria | □ | Major criterion (⩾1) | □ | ||
| FBN1 mutation that is likely to be pathogenetic | □ | ||||
| Haplotype around the FBN1 locus inherited by descent and unequivocally associated with diagnosed Marfan in family | □ |