Noonan Syndrome can be clinically diagnosed if certain findings are present. Identification of an associated genetic defect can confirm the diagnosis.
(1) facial dysmorphology
(2) cardiac defect
(3) short stature
(4) chest wall malformation
(5) family history
(6) 3 other findings (mental retardation, cryptorchidism, lymphatic dysplasia)
pulmonic valve stenosis, hypertrophic obstructive cardiomyopathy (HOCM), ECG typical for Noonan syndrome
percentile for age and gender
chest wall malformation
pectus excavatum or pectus carinatum
first degree relative with definite Noonan syndrome
first degree relative with findings suugestive of Noonan syndrome
at least 1 of the 3
none of the 3
• There probably needs to be an additional criteria covering suggestive facial dysmorphology, 1 major nonfacial criteria and >=2 minor.
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