This paper focuses on the influence of consanguinity on the occurrence of orofacial clefts. All patients with orofacial clefts registered at King Faisal Specialist Hospital and Research Center, Riyadh since June 1999 until December 2009 were included in this study. Patients were classified in two distinct groups: cleft lip with or without cleft palate (CL ± P) and isolated cleft palate (CP). Chi-squared test was used to test independence of variables. Intracluster correlation coefficient was estimated to assess the degree of concordance between siblings. Among 1,171 total patients, CL ± P was found to be more common (64.0%). Males were more likely to be affected with CL ± P (M:F = 1.5:1) and females were more likely to be affected with CP (M:F = 0.9:1; P < 0.0001). About a third of patients had a family history of clefts; family history was more likely to be positive for patients with CL ± P than for patients with CP (33.6% vs. 22.0%; P < 0.0001). Consanguineous relationships were seen in 56.8% of our patients' parents. Family history was more likely to be positive for patients whose parents were consanguineous than those who were non-consanguineous (34.2% vs. 25.8%; P = 0.003), both for the CL ± P and CP groups. Recurrence among siblings did not differ between those born to consanguineous versus non-consanguineous parents. Recurrence of clefts in offspring was higher among parents affected by cleft compared to those who were not affected (51.4% vs. 11.4%; P < 0.0001), both for CL ± P and CP groups. Education about anticipated genetic consequences of consanguinity is important for populations with a high degree of consanguinity.
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