Genetic factors associated with cleft lip and palate in children at the “William Soler” hospital, 2021 to 2022

Introduction: Cleft lip and palate are common congenital anomalies and the etiopathogenesis is not well understood, being fundamentally associated with polygenic or multifactorial inheritance. In nonsyndromic oral clefts, the genetic condition represents around 25% of cases. Objective. To identify the genetic factors associated with cleft lip and palate. Method. Descriptive, cross-sectional and retrospective study of 104 patients treated for congenital cleft lip and palate in the Maxillofacial Surgery department of the William Soler Ledea Pediatric Hospital from January 2021 to December 2022. The variables studied were: sex, form of presentation of the cleft, isolated congenital defects, previous siblings, intergenetic period, history of family members with congenital malformations, consanguinity of the parents and abortions. Results: The patients presented with an equal distribution by sex (p=0.890), isolated clefts (90.4%) occurred regardless of sex. The presence of previous siblings (59.6%) was significantly associated (p=0.0084), as were a history of family congenital malformations (36.5%) of second degree consanguinity (50%), and previous abortions (50%). Conclusions. The children studied with cleft lip and palate follow a homogeneous distribution by sex and only a small number presented multiple congenital defects. Slightly more than a third were associated with multiparous mothers, with a high frequency of previous abortions, and evidence of a history of familial congenital malformations, mainly of second degree consanguinity through the maternal line.