| Phenotype |
Score |
| Wrist or thumb sign |
1 |
| Wrist and thumb sign |
3 |
| Pectus carinatum deformity |
2 |
| Pectus excavatum or chest asymmetry |
1 |
| Hindfoot deformity |
2 |
| Plain flat foot (pes planus) |
1 |
| Pneumothorax |
2 |
| Dural ectasia |
2 |
| Protrusio acetabulae |
2 |
Reduced upper segment / lower segment AND
increased arm span/height ratios |
1 |
| Scoliosis or thoracolumbar kyphosis |
1 |
| Reduced elbow extension |
1 |
| 3 of 5 facial features |
1 |
| Skin striae |
1 |
| Pneumothorax |
2 |
| Dural ectasia |
2 |
| Protrusio acetabulae |
2 |
| Myopia |
1 |
| Mitral valve prolapse |
1 |
