Orofacial clefts embryology, classification, epidemiology, and genetics

Abstract

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.

Keywords: Cleft lip/palate (CL/P); Cleft palate only (CPO); Genome-wide association studies (GWAS); Lip and palate development; Orofacial clefts (OFCs); Whole exome sequencing (WES).