Feature | A (Major) | B (Minor) |
| Typical facies (facial features of NS vary over time and may have only subtle differences). Expert assessment is therefore required.[1] | Suggestive facies |
| Pulmonary valve stenosis and/or hypertrophic cardiomyopathy | Other cardiac defect |
| <3rd centile | <10th centile |
| Pectus carinatum/excavatum | Broad thorax |
| First-degree relative with definite NS | First-degree relative with features suggestive of NS |
| Mild developmental delay, cryptorchidism, and lymphatic dysplasia | Mild developmental delay, cryptorchidism, or lymphatic dysplasia |
Definitive clinical NS diagnosis is possible for individuals meeting: | ||
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