Noonan Syndrome

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Noonan syndrome (NS) is a common, heterogeneous condition characterized by:

- distinctive facial features
- short stature
- chest deformity
- congenital heart disease

Gene mutations identified in individuals with the NS phenotype are involved in the Ras/MAPK (mitogen-activated protein kinase) signal transduction pathway and explain 61% of NS cases.

NS frequently remains a clinical diagnosis (only 61% of cases are explained by mutations).

The Noonan Syndrome Support Group (NSSG) is a nonprofit organization that provides support and information to those affected by NS.

References:
Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines. PEDIATRICS Vol. 126 No. 4 October 2010, pp. 746-759 (doi:10.1542/peds.2009-3207)