Noonan 综合征（NS）是一类常染色体显性遗传性疾病，主要临床表现为特殊面容、先天性心脏病、身材矮小、发育迟缓、学习障碍等，约70%~80% 患者发病与丝裂原活化蛋白激酶信号通路（RAS-MAPK）中PTPN11 等基因的突变有关。文章综述近年来NS 的发病机制、诊断、治疗和遗传学等方面的研究进展。

　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.