Gent nosology describing typical clinical and imaging features of patients with Marfan syndrome
| Skeletal system |
| Major criteria (presence of at least 4 of the following manifestations) |
| • pectus carinatum |
| • pectus excavatum requiring surgery |
| • reduced upper to lower segment ratio or arm span to height ratio greater than 1.05 |
| • wrist and thumb signs |
| • scoliosis of greater than 20° or spondylolisthesis |
| • reduced extension at the elbows (< 170°) |
| • medial displacement of the medial malleolus causing pes planus |
| • protrusio acetabulae of any degree (ascertained on radiographs) |
| Minor criteria |
| • pectus excavatum of moderate severity |
| • joint hypermobility |
| • highly arched palate with crowding of teeth |
| • facial appearance (dolichocephaly, malar hypoplasia, enophthalmos, retrognathia, down slanting palpebral fissures) |
| Ocular system |
| Major criteria |
| • Ectopia lentis |
| Minor criteria |
| • Abnormally flat cornea (as measured by keratometry) |
| • Increased axial length of globe (as measured by ultrasound) |
| • Hypoplastic iris or hypoplastic ciliary muscle causing decreased miosis |
| Cardiovascular system |
| Major criteria |
| • dilatation of the ascending aorta with or without aortic regurgitation and involving at least the sinuses of Valsalva or |
| • dissection of the ascending aorta |
| Minor criteria |
| • mitral valve prolapse with or without mitral valve regurgitation |
| • dilatation of the main pulmonary artery, in the absence of valvar or peripheral pulmonic stenosis or any other obvious cause, below the age of 40 years |
| • calcification of the mitral annulus below the age of 40 years or |
| • dilatation or dissection of the descending thoracic or abdominal aorta below the age of 50 years |
| Pulmonary system |
| Major criteria |
| • none |
| Minor criteria |
| • spontaneous pneumothorax or |
| • apical blebs (ascertained by chest radiography) |
| Skin and integument |
| Major criteria |
| • none |
| Minor criteria |
| • striae atrophicae (stretch marks) not associated with major weight changes, pregnancy or repetitive stress, or |
| • recurrent or incisional herniae |
| Dura |
| Major criteria |
| • lumbosacral dural ectasia by CT or MRI |
| Minor criteria |
| • none |
| Family/genetic history |
| Major criteria |
| • having a parent, child or sibling who meets these diagnostic criteria independently |
| • presence of a mutation in FBN1known to cause the Marfan syndrome or |
| • presence of a haplotype around FBN1, inherited by descent, known to be associated with unequivocally diagnosed Marfan syndrome in the family |
| Minor criteria |
| • none |