hrp0095p1-506 | Growth and Syndromes | ESPE2022

A service evaluation on the management of Noonan syndrome in the West of Scotland

Donat Guillaume , Shaikh Guftar , Kinning Esther , McGowan Ruth

Background: Noonan syndrome (NS) is a condition caused by pathogenic variants of the genes of the RAS-MAPK pathway. Its clinical manifestations are diverse and include congenital heart disease, short stature, ocular abnormalities, coagulation defects and structural renal anomalies. Our aim was to find out whether the patients with a genetic diagnosis of NS in the West of Scotland were managed according to the Management of Noonan Syndrome guidelines (DYSCERNE)...