Meier-Gorlin综合征是一种罕见的以小耳畸形、髌骨不发育或发育不全以及身材矮小为主要临床表现的家族遗传性疾病。目前大部分患者发病与DNA的复制缺陷或中心体及纤毛形成障碍相关的基因有关。主要依靠典型的临床三联征及特殊的面部特征结合基因学进行诊断。目前对于Meier-Gorlin综合征的相关报道较少，对此病的认识尚存不足。该文通过对此综合征的临床表现、分子遗传学特征、诊断和鉴别诊断及治疗方法进行综述，对全面了解该病有一定意义。“,”Meier-Gorlin syndrome is a rare inherited disease characterized by the triad of microtia, patellar dysplasia or dysplasia, and short stature. Mutation in the genes of pre-replication complex or involved in DNA-replication is detected in the majority of patients. The diagnosis is mainly based on the typical clinical triad, special facial features and the finding of pathologic genes. The knowledge of this disease is still insufficient and this article reviews the clinical manifestations, genetic characteristics, diagnosis, differential diagnosis and treatment of this syndrome, which has some significances for the comprehensive understanding of this disease.