Prevalence of Craniofacial Birth Defects in Saskatchewan (2014-2024)

Saskatchewan has one of the highest rates of orofacial clefts within Canada, however there is limited information pertaining to genetic variants and environmental toxins that contribute to its high rate. The most common craniofacial birth defect is orofacial clefts which include cleft lip and palate (CLP). These clefts occur in 4-5% of births. This project is a retrospective case review which analyzed the charts of individuals with craniofacial anomalies seen by the Medical Genetics Clinic at the Royal University Hospital in Saskatoon from 2014-2024. Health information retrieved included demographics, family history, type of craniofacial anomaly, and genetics test results. Over 240 patients were included in this study with 181 individuals with CLP. Genetic test results identified over 130 variants of unknown significance (VUS). Additionally, three families had the same VUS identified in two or more of their family members. Further data from various genetics clinics across Saskatchewan is warranted to determine an accurate prevalence of craniofacial birth defects, and further testing warranted to determine the role of these VUS in the development of craniofacial defects.