About Noonan Syndrome
Noonan syndrome is one of the most common autosomal dominant conditions, caused by gain-of-function mutations in genes encoding components of the RAS-MAPK signalling pathway, with PTPN11 (encoding SHP-2 phosphatase) accounting for approximately 50% of cases. The phenotype includes characteristic facial dysmorphology, congenital heart defects (particularly pulmonary valve stenosis and hypertrophic cardiomyopathy), short stature with growth hormone axis dysregulation, and variable neurodevelopmental involvement. Individuals with RAF1 and RIT1 mutations carry a higher risk of hypertrophic cardiomyopathy, while PTPN11 mutations are associated with an increased risk of juvenile myelomonocytic leukaemia.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Noonan Syndrome trials.
Current echocardiogram (within 12 months) documenting cardiac anatomy, valvular gradients, and LV wall thickness is a universal enrolment requirement — ensure this is performed by a paediatric or congenital cardiologist.
Specific gene identification within the RAS-MAPK pathway is required by most trials, as therapies targeting MEK or SHP-2 have differential efficacy across genotypes.
Growth records plotted on Noonan syndrome-specific growth charts, current height SDS, and prior or current growth hormone therapy history must be documented for trials with height or growth velocity endpoints.
Patient Resources
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