12th April 2024

Noonan syndrome

An autosomal dominant genetic condition, affecting the RAS/MAPK cell signalling pathway. This condition typically presents with short stature, macrocephaly, and widely set but low-set eyes. It is associated with intellectual and developmental delays, and the main cardiac pathology is pulmonary stenosis. Noonan syndrome also has other complications, such as cryptorchidism, leading to male infertility and deafness. Diagnosis is through molecular genetic testing.