Table 8.

Recommended Surveillance for Individuals with Noonan Syndrome

  • Measurement of growth parameters on NS-specific growth charts
  • Eval of nutritional status in infants & toddlers
At each visit
Development Monitor developmental progress & educational needs.
Neurologic Assess for new manifestations, e.g., chronic headache, neck pain, changes in tone, dizziness, or signs/symptoms of OSA that may indicate a Chiari malformation. 1
Integument Skin exam
Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination.
Behavioral assessment for anxiety, attention, & depressionAt each visit starting in early childhood, as age appropriate
Cardiovascular In children <5 yrs: if initial cardiac eval is normalAt least annual cardiac eval until age 5 yrs or as clinically indicated
In children >5 yrs through adulthoodAt least every 5 yrs or as clinically indicated
Eyes Ophthalmology evalAnnually in childhood & adolescence or as clinically indicated
Hearing Audiology evalAnnually in early childhood or as clinically indicated
For those w/pathogenic PTPN11 or KRAS variants 3: consider physical exam w/assessment of spleen size & CBC.Every 3-6 mos until age 5 yrs
In consultation w/hematologist: bleeding history, CBC w/differential, PT/aPTT, factor XI, XII, IX, VIII, vWf, & platelet aggregation testingPrior to any surgical procedure or if there is a bleeding history

CBC = complete blood count; PT/aPTT = prothrombin/activated partial thromboplastin time; vWF = von Willebrand factor; JMML = juvenile myelomonocytic leukemia; OSA = obstructive sleep apnea


With referral to neurologist and consideration of head MRI to include sections through the base of the skull to assess for Chiari malformation


Despite the apparent increased incidence of hematologic and solid tumor malignancies, no consensus surveillance strategies have been evaluated or recommended.


From: Noonan Syndrome

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