Treacher Collins综合征是以常染色体显性遗传为主要遗传方式的先天颅面畸形。已知致病基因为TCOF1、POLR1D、POLR1C。其致病机制可能是基因突变后引起单倍剂量不足而导致成熟核糖体减少,不能满足神经嵴细胞增殖所需,最终导致颅面畸形发生。本文将从分子遗传学、发病机制等方面对该综合征的基础研究现状做一综述。 Treacher Collins syndrome is a congenital craniofacial deformity that is autosomal dominantly inherited. Known pathogenic genes TCOF1, POLR1D, POLR1C. The pathogenic mechanism may be caused by gene mutation caused by lack of haploinsufficiency of mature ribosomes, can not meet the proliferation of neural crest cells required, eventually leading to craniofacial deformity. This article will review the basic research status of this syndrome from the aspects of molecular genetics and pathogenesis.