Novel insights in Noonan syndrome

Noonan syndrome is an inherited developmental disorder, classically identified by typical appearance, short stature, and cardiologic impairment. Nowadays it is recognized as part of RASopathies, i.e. a group of genetic disorders affecting the RAS-MAPK pathway. Diagnosis and clinical management of Noonan syndrome are challenging for the general paediatrician and children do require thorough multidisciplinary assessments throughout growth. Particularly, they must be referred to both paediatric endocrinologists and paediatric cardiologists. Prompt diagnosis is possible and genetic counselling for affected families is essential. This paper reviews clinical features and current treatment guidelines of Noonan syndrome in order to allow general paediatricians to better care children and adolescents with Noonan syndrome and to ensure a proper multidisciplinary approach.