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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]