Cleft lip with or without cleft palate (CL ± P) is a common congenital anomaly with complex genetic origins. This study presents a genetic case series of three Ecuadorian families with non-syndromic c Show more
Cleft lip with or without cleft palate (CL ± P) is a common congenital anomaly with complex genetic origins. This study presents a genetic case series of three Ecuadorian families with non-syndromic cleft lip and/or palate analyzed using whole-exome sequencing (WES). We identified rare or novel variants in genes with established or emerging roles in craniofacial development. Bioinformatic analyses—while not supported by functional validation—helped prioritize several candidate variants, including a novel These findings provide exploratory genetic data from an underrepresented Latin American population and highlight the need to include diverse cohorts in genomic research to improve diagnosis and genetic counseling. The online version contains supplementary material available at 10.1186/s12903-026-07796-8. Show less