Systemic Score for Marfan Syndrome

Wrist or thumb sign

1 for either or 3 for both

Pectus carinatum

2

Pectus excavatum or chest asymmetry

1

Hindfoot valgus

2

Pes planus

1

Spontaneous pneumothorax

2

Dural ectasia (requires lumbar spine MRI)

2

Protrusio acetabuli (requires pelvic radiograph)

2

Scoliosis or thoracolumbar kyphosis (requires spinal radiograph)

1

Reduced elbow extension

1

3 of 5 characteristic facial features (dolichocephaly, enophthalmos, downslanting palpebral fissures, malar hypoplasia, and retrognathia)

1

Skin striae

1

Severe myopia (prescription > 3 diopters)

1

Mitral valve prolapse (requires echocardiography)

1

Reduced upper/lower segment ratio and increased arm span/height ratio†

1