Genetic etiology of cleft lip and cleft palate

Genetic studies in humans have demonstrated that Cleft lip with or without cleft palate (CL/P) have a diverse genetic background and probably environmental factors influencing these malformations. CL/P is one of the most common congenital birth defects in the craniofacial region with complex etiology involving multiple genetic factors, environmental factors and gene-environment interaction. Children born with these defects suffer from various difficulties such as difficulty in speech, hearing, feeding and other psychosocial problems, and their rehabilitation involves a multidisciplinary approach. The article describes the brief introduction of CL/P, epidemiology and general concepts, etiological factors, and the genes implicated in the etiology of nonsyndromic CL/P (NSCL/P) as suggested by different human genetic studies, animal models, and other expression studies. Keywords: cleft lip; cleft palate; genetics; candidate genes; molecular biology; mutations; genome-wide association study