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Scoring system for Noonan syndrome (NS) # |
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| Feature |
A = Major |
B = Minor |
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| 1 Facial |
Typical face dysmorphology |
Suggestive face dysmorphology |
| 2 Cardiac |
Pulmonary valve stenosis, HOCM and/or ECG typical of NS |
Other defect |
| 3 Height |
<P3* |
<P10* |
| 4 Chest wall |
Pectus carinatum/excavatum |
Broad thorax |
| 5 Family history |
First degree relative with definite NS |
First degree relative with suggestive NS |
| 6 Other |
Mental retardation, cryptorchidism and lymphatic dysplasia |
One of mental retardation, cryptorchidism, lymphatic dysplasia |
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HOCM: hypertrophic obstructive cardiomyopathy; *P3 and P10 refer to percentile lines for height according to age, with the normal range of variation defined as P3-P97 inclusive Definitive NS: 1 "A" plus one other major sign or two minor signs; 1 "B" plus two major signs or three minor signs # adapted from [2] | ||
van der Burgt Orphanet Journal of Rare Diseases 2007 2:4 doi:10.1186/1750-1172-2-4 |
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