Genetics in Cleft Lip and Palate

Orofacial cleft is one of the most significant birth defects across the globe. The focus of this work is to highlight the most recent advances in understanding of cleft lip and palate occurrence. Information regarding research on long time outcomes, genes, and their interactions with other genes are compiled to provide the overview on the current knowledge of the etiology of cleft lip and palate .A gene IRF6(interferon regulatory factor) has been shown to be an important contributor to cleft lip and palate ,but the functional variant leading to the defect has not yet been defined. Inactivation of the gene MSX1 and genes in the FGF(fibroblast growth factor) family have also been shown to cause cleft lip and palate in human beings. In addition, mutations in several candidate genes may cause cleft lip and palate, but definitive evidence regarding the biological consequences of the mutations is yet to be unravelled. The recent advances in cleft research includes the analysis of several additional phenotypical features of the population, with the goal of increasing the statistical power of genetic studies.