Cleft Lip and Palate: From Genetic Foundations to Psychological Impact – A Multidisciplinary Review

Cleft lip and/or cleft palate consider one of the most known and common congenital disorders of the head causing clear disruption of the normal face structure. Despite being the most seen birth defects, the clefts genetic basis is still not fully comprehended. Clefts have sporadic genetic nature, it can occur duo to rare mutations as part of syndromic disease or it can be isolated, non-syndromic cleft. The contemporary advances in genomic technology have enabled a deeper comprehension of the complex architecture of cleft lip/palate, of these technologies are genome-wide association studies, whole genome sequencing, transcriptome-wide association studies and others. Furthermore, the integration of genetic, epigenetic and environmental factors continues to reveal intricate characteristics associated with cleft lip/palate. These discoveries hold significant implications in genetic testing, counselling, risk predication and treatment development.