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 |