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Table 1 Scoring system for Noonan syndrome (NS) #

From: Noonan syndrome

Feature A = Major B = Minor
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
  1. HOCM: hypertrophic obstructive cardiomyopathy;
  2. *P3 and P10 refer to percentile lines for height according to age, with the normal range of variation defined as P3-P97 inclusive
  3. Definitive NS: 1 "A" plus one other major sign or two minor signs; 1 "B" plus two major signs or three minor signs
  4. # adapted from [2]