MoDeNS

Noonan syndrome (NS) is a multisystemic disorder characterized by facial and skeletal dysmorphisms, short stature, congenital heart defects, organ dysfunction, and mild to moderate developmental and learning delays. The primary aim of this study is to assess the psychocognitive profile of a group of children and adolescents affected by NS, comparing it with that of non-syndromic individuals, and to investigate the molecular mechanisms involved in the syndrome. This approach will provide the basis for the development of new treatments capable of modifying and potentially preventing irreversible effects, ultimately improving the quality of life of affected patients.