Table 1.
Marfan syndrome—diagnostic criteria (J Med Genet 2010;47:476–85)
| (A) Diagnosis of Marfan syndrome | ||
| In the absence of family history | Aortic root dilatation Z score ≥ 2 AND ectopia lentis | |
| Aortic root dilatation Z score ≥ 2 AND FBN1 | ||
| Aortic root dilatation Z score ≥ 2 AND systemic score ≥ 7a | ||
| Ectopia lentis AND FBN1 with known aortic root dilatation | ||
| In the presence of family history | Aortic root dilatation Z score ≥ 2 AND ectopia lentis | |
| Aortic root dilatation Z score ≥ 2 AND FBN1 | ||
| Aortic root dilatation Z score ≥ 2 AND systemic score ≥ 7a | ||
| Ectopia lentis AND FBN1 with known aortic root dilatation | ||
| (B) Systemic score | Value | |
| Skeletal | ||
| Reduced upper segment/lower segment and increased arm span/height | 1 | |
| Wrist AND thumb sign | 3 | |
| Wrist OR thumb sign | 1 | |
| Pectus carinatum deformity | 2 | |
| Pectus excavatum or chest asymmetry | 1 | |
| Hindfoot deformity | 2 | |
| Plain flat foot | 1 | |
| Spontaneous pneumothorax | 2 | |
| Dural ectasia | 2 | |
| Protrusio acetabuli | 2 | |
| Scoliosis or thoracolumbar kyphosis | 1 | |
| Reduced elbow extension | 1 | |
| Facies | ||
| Three of five facial features | 1 | |
| Dolichocephaly | ||
Downward slanting palpebral fissures |
||
Enophthalmos |
||
| Retrognathia | ||
Malar hypoplasia |
||
| Skin | ||
| Skin striae | 1 | |
| Eye | ||
| Severe myopia (>3 diopters) | 1 | |
| Heart | ||
| Mitral valve prolapse | 1 | |
a
A score of ≥ 7 is considered a positive systemic score.