Noonan syndrome


What do you do after being diagnosed with Noonan syndrome?

At the time of diagnosis the following evaluations are recommended:

Consultation with a clinical geneticist and/or genetic counselor

Complete physical and neurologic examination

Plotting of growth parameters on Noonan syndrome growth charts

Cardiac evaluation with echocardiography and electrocardiography (ECG)

Ophthalmologic evaluation

Hearing evaluation

Coagulation screen to include CBC with differential, PT/PTT

Renal ultrasound examination and a urinalysis if urinary tract abnormalities are found

Clinical and radiographic evaluation of spine and rib cage

Brain and cervical spine MRI if neurologic symptoms are present

Multidisciplinary developmental evaluation

Speak to a genetic counselor or a medical geneticist to learn more about Noonan syndrome.

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