Abstract: Noonan syndrome is a relatively common autosomal dominant genetic disease. Genetic heterogeneity of Noonan syndrome has a large rang and involves multiple disciplines. Its main clinical features includes   short stature, craniomaxillofacial deformity,  congenital heart defects,  and cognitive impairment. It can also be accompanied by a series of diseases of the blood system,  and patients with Noonan syndrome have a higher risk of cancer compared to the general population. Recombinant human growth hormone therapy can help improve the height of patients with Noonan syndrome and requires multidisciplinary treatment of congenital abnormalities in other systems.The clinical characteristics and related gene mutations of Noonan syndrome were summarized so as to provide a reference for clinic research.

Key words: short ribpolydatyly syndrome, faces, heart defects, , congenital, growth hormone