Diagnosis of Noonan syndrome

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There is no specific test to diagnose Noonan syndrome. Symptoms are assessed and Noonan syndrome is only diagnosed when a number of characteristics and features are present.

The condition is often investigated when a doctor hears a heart murmur. This is the noise made by uneven blood flow in the heart, and can be a sign of a heart defect. The cause of the murmur is usually investigated using an echocardiogram (ECHO).