Criteria for the Diagnosis of Marfan Syndrome

System

Major Criteria

Minor Criteria

skeletal

>= 4 of the following:

(1) pectus carinatum (ribs pushed out)

(2) pectus excavatum requiring surgery

(3) abnormal upper to lower body segment ratio or arm span to height ratio (see below)

(4) positive wrist or thumb sign

(5) scoliosis >= 20° or spondylolisthesis

(6) reduced extension of the elbows (< 170°)

(7) medial displacement of the medial malleolus causing pes planus

(8) protrusio acetabulum (any)

pectus excavatum (ribs pushed in) of moderate severity

joint hypermobility

highly arched palate with dental crowding

facial appearance (see below)

ocular

ectopia lentis

abnormally flat cornea (by keratometry)

increased axial length of the globe (by ultrasound)

hypoplastic iris or hypoplastic ciliary muscle causing a decreased miosis

cardiovascular

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

mitral valve prolapse with or without mitral valve regurgitation

dissection of the ascending aorta

dilatation of the main pulmonary artery in the absence of valvular or peripheral pulmonic stenosis or any other obvious cause at age < 40 years

calcification of the mitral annulus at age < 40 years

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

pulmonary

<none>

spontaneous pneumothorax

apical blebs (may be seen on chest X-rays)

skin

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

family

parent, child or sib who meet the diagnostic criteria independently

<none>

presence of a mutation in FBN1 known to cause the Marfan syndrome

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