Systemic Features Scoring (maximum: 20 points; score ≥ 7 indicates systemic involvement) | ||||||||
---|---|---|---|---|---|---|---|---|
Wrist AND thumb signs# | 3 | |||||||
Wrist OR thumb sign# | 1 | |||||||
Pectus carinatum deformity | 2 | |||||||
Pectus excavatum or chest asymmetry | 1 | |||||||
Hindfoot deformity | 2 | |||||||
Plain pes planus | 1 | |||||||
Pneumothorax | 2 | |||||||
Dural ectasia | 2 | |||||||
Protrusio acetabuli | 2 | |||||||
Reduced upper segment/lower segment ratio AND increased arm/height AND no severe scoliosis | 1 | |||||||
Scoliosis or thoracolumbar kyphosis | 1 | |||||||
Reduced elbow extension | 1 | |||||||
Facial features (3/5) dolichocephaly, enophthalmos, downslanting palpebral fissures, malar hypoplasia, retrognathia | 1 | |||||||
Skin striae | 1 | |||||||
Myopia > 3 diopters | 1 | |||||||
Mitral valve prolapse (all types) | 1 | |||||||
Diagnostic criteria* | ||||||||
Family History Negative | ||||||||
Marfan Syndrome | Aortic diameter at the sinuses of Valsalva ≥ Z-score 2, or aortic root dissection | + | Ectopia Lentis | |||||
FBN1 | ||||||||
Systemic Features ≥ 7 points | ||||||||
Ectopia Lentis | + | FBN1 variant with known association with aortic enlargement or dissection | ||||||
Ectopia Lentis Syndrome | Ectopia Lentis | + | FBN1 variant without known association with aortic enlargement or dissection | + | Systemic Features | |||
– | – | |||||||
MASS | Aortic diameter at the sinuses of Valsalva < Z-score 2 | + | Systemic Features ≥ 5 points (at least one skeletal feature) | – | Ectopia Lentis | |||
MVPS | Mitral Valve Prolapse | + | Aortic diameter at the sinuses of Valsalva < Z-score 2 | + | Systemic Features < 5 points | – | Ectopia Lentis | |
Family History Positive | ||||||||
Marfan Syndrome | Positive Family History | + | Ectopia Lentis | |||||
Systemic Features ≥ 7 points | ||||||||
Aortic diameter at the sinuses of Valsalva ≥ Z-score 2, above age 20 years | ||||||||
Aortic diameter at the sinuses of Valsalva ≥ Z-score 3, below age 20 years |