New Orphanet summary reviewed by ITHACA

Noonan Syndrom is a rare, highly variable, multisystemic disorder mainly characterized by short stature, distinctive facial features, congenital heart defects, cardiomyopathy and an increased risk to develop tumors in childhood

This syndrome has just been codified on Orphanet (ORPHA:648) and a summary revised by Pr Alain Verloes for the ERN ITHACA was published in April 2020.

Follow the link to read the summary