Abstract

Objective: This study aimed to characterize the patterns and demographic, familial, and medical factors associated with non-syndromic orofacial clefts (NSOFCs) among patients at a governmental hospital in Jeddah, Saudi Arabia.
Methods: A cross-sectional study was conducted on 245 patients referred to the Craniofacial Deformity Clinic at King Fahad Armed Forces Hospital from 2012 to 2020. Data on demographics, cleft type, parental consanguinity, family history, and medical conditions were retrieved from medical records.
Results: The cohort comprised 53.1% males. Cleft palate only (CP) was the most common phenotype (38.0%), followed by unilateral cleft lip and palate (UCLP) (24.9%). Gender distribution across NSOFC sub-phenotypes was statistically significant (p-value = 0.042), with CP more prevalent among females and UCLP more common in males. Parental consanguinity (39.6%) and a family history of NSOFC (27.8%) showed no significant association with cleft phenotypes (p-values = 0.262 and 0.573, respectively). In contrast, the presence of other medical conditions was significantly related to the NSOFC phenotype (p-value = 0.018).
Conclusion: The findings highlighted the multifactorial etiology of orofacial cleft in this population, with a significant gender disparity in sub-phenotypes and an association with systemic health conditions. The lack of significant links with consanguinity and family history underscores the need to integrate genetic, environmental, and medical factors in clinical management and future research.

Key words: Orofacial clefts, cleft lip, cleft palate, consanguinity, Saudi Arabia.