Clinical presentation and distribution of orofacial clefts according to parental consanguinity and family history: A 20-year hospital-based retrospective study.

Abstract

This retrospective observational study was conducted to determine the patterns and characteristics of cleft lip (CL), cleft palate (CP), and cleft lip and palate (CLP), and their association with consanguinity and family history in the Madinah region of Saudi Arabia over the past two decades. We analyzed anonymous records of 704 cleft cases from a multidisciplinary team registry from 2005 to 2024. Collected variables included gender, cleft classification, severity, laterality, family history, and parental consanguinity. Associations between cleft characteristics and genetic factors were assessed using chi-square tests. Among the 704 cleft cases, 382 (54.3%) were male and 322 (45.7%) were female. Isolated CP was the most common (38.2%), followed by CLP (31.8%) and CL (30%). Left-sided CL predominated (41.7%) and complete CP was the most frequent (69.2%). Consanguinity was reported in 69.3% (488/704) of the cleft cohort overall, it was reported in 75% of CL, 67% of CP, and 67% of CLP cases, with no significant association between consanguinity and cleft type (p=0.112). As this study did not include unaffected controls, these findings describe consanguinity prevalence within the cleft cohort and it cannot be used to establish consanguinity as a risk factor for cleft occurrence. Cleft characteristics in Madinah showed predominance of left-sided CL. Family history was significantly associated with all cleft types (p<0.001) and influenced CL laterality. These findings support the importance of genetic counseling, early detection, and targeted preventive strategies for better public health surveillance with high rates of familial marriages.