Criteria for the Diagnosis of Marfan Syndrome

Ribs and sternum

• an abnormal upper to lower body segment ratio?

• an increased arm span to height ratio?

• a positive wrist or thumb sign?

• scoliosis >= 20°?

• spondylolisthesis?

• reduced extension of the elbows (< 170°)?

• medial displacement of the medial malleolus causing pes planus?

• protrusio acetabulum (any)?

• joint hypermobility?

• highly arched palate with dental crowding?

• facial appearance with dolichocephaly, malar hypoplasia, enophthalmos, retrognathia, and down-slanting palpebral fissures?

• ectopia lentis?

• abnormally flat cornea (by keratometry)?

• increased axial length of the globe (by ultrasound)?

• hypoplastic iris or hyplastic ciliary muscle causing a decreased miosis?

• dilatation of the ascending aorta with or without aortic regurgitation and involving at least the sinuses of Valsalva?

• dissection of the ascending aorta?

• mitral valve prolapse with or without mitral valve regurgitation?

• dilatation of the main pulmonary artery in the absence of an obvious cause at age < 40 years?

• calcification of the mitral annulus diagnosed at age < 40 years?

• dilatation or dissection of the descending thoracic or abdominal aorta diagnosed at age < 50 years?

• spontaneous pneumothorax?

• apical blebs in the lungs?

• lumbosacral dural ectasia (on CT scan or MRI)?

• striae atrophica (stretch marks) not associated with marked weight changes, pregnancy or repetitive stress?

• recurrent or incisional hernias?

• a parent, child or sib who meet the diagnostic criteria independently?

• a mutation present in FBN1 known to cause the Marfan syndrome?

• a haplotype present around the FBN1, inherited by descent, known to be associated with unequivocally diagnosed Marfan syndrome in the family?