Noonan syndrome (NS) is an autosomal dominant hereditary disease characterized by distinctive facial features, congenital cardiac defects, short stature, growth retardation, learning disability, and other comorbidities. About 70%-80% of patients with NS were associated with gene mutations (eg, PTPN11) in mitogen-activated protein kinase signal pathway (RASMAPK). In this article, the progress in the pathogenesis, diagnosis, treatment and genetics of NS in recent years was reviewed.