Exploring the Link: A Study on Consanguinity and Orofacial Clefts

Objective To evaluate the association between parental consanguinity and cleft phenotype, family history, syndromic status, regional distribution, and sex-specific presentation among Saudi patients affected by cleft lip and/or palate (CL/P). Design Retrospective cross-sectional observational study. Setting Two tertiary referral centers in Riyadh, Saudi Arabia. Patients, Participants Included were 2137 patients diagnosed with cleft lip, cleft palate, or CL/P between 2014 and 2024. Patients with incomplete key variables or craniofacial anomalies unrelated to CL/P were excluded. Interventions None. Main Outcome Measures Cleft phenotype, parental consanguinity, family history of CL/P, syndromic status, regional distribution, and sex-specific cleft presentation. Results Among 2137 patients, 1291 (60.4%) were born to consanguineous parents. Cleft distribution did not differ significantly by consanguinity status. Consanguineous families had higher positive family history rates than nonconsanguineous families (40.7% vs 35.1%, P = .032), mainly due to affected extended relatives (30.1% vs 24.3%, P = .002). Bilateral CL/P was most frequent among consanguineous females (49.4%), while unilateral CL/P predominated among nonconsanguineous males (46.5%). Consanguineous cases were more frequent in Northern and Southern regions. Syndromic status was similar between groups (9.3% vs 10.4%, P = .399). Conclusions Among Saudi patients affected by CL/P, parental consanguinity was common and associated with a higher positive family history, especially among extended relatives. Bilateral CL/P was more frequent among consanguineous families, particularly females, while unilateral CL/P predominated among nonconsanguineous males. Syndromic status and cleft type by degree of consanguinity showed no significant association.