Department of Natural Sciences, School of Arts and Sciences, Lebanese American University, P.O. Box: 13-5053, Chouran, 1102 2801, Beirut, Lebanon.
Mutat Res Rev Mutat Res. 2021 Jan-Jun;787:108373. doi: 10.1016/j.mrrev.2021.108373. Epub 2021 Feb 28.
Orofacial clefts (OFCs) rank as the second most common congenital birth defect in the United States after Down syndrome and are the most common head and neck congenital malformations. They are classified as cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO). OFCs have significant psychological and socio-economic impact on patients and their families and require a multidisciplinary approach for management and counseling. A complex interaction between genetic and environmental factors contributes to the incidence and clinical presentation of OFCs. In this comprehensive review, the embryology, classification, epidemiology and etiology of clefts are thoroughly discussed and a "state-of-the-art" snapshot of the recent advances in the genetics of OFCs is presented.
口腔颌面部裂（OFCs）是继唐氏综合征之后美国第二大常见的先天性出生缺陷，也是最常见的头颈部先天畸形。它们分为唇裂伴或不伴腭裂（CL/P）和单纯腭裂（CPO）。OFCs 对患者及其家庭具有重大的心理和社会经济影响，需要多学科方法进行管理和咨询。遗传和环境因素的复杂相互作用导致了 OFCs 的发病率和临床表现。在这篇全面的综述中，深入讨论了裂的胚胎学、分类、流行病学和病因，并介绍了 OFCs 遗传学最新进展的“最新技术”。
