A retrospective study on familial occurrence of cleft lip and/or palate

Abstract Objective The aim of this study was to assess whether familial occurrence has an influence on the state of patients with non-syndromic cleft lip and/or palate (NsCL/P). Materials and methods A retrospective analysis was performed, using medical records of 425 patients with NsCL/P who underwent integrated treatment in the Cleft Lip and Palate Center, University of the Ryukyus Hospital between 1994 and 2010. No affected subjects had accompanying defects or findings suggestive of a syndromic diagnosis. Results Of the total of 425 participants with NsCL/P, 82 (19.29%) presented a positive history of cleft in their families and 343 (80.70%) presented a negative history. In the distribution of the cleft types, the frequencies of cleft lip only (CLO), cleft lip and alveolar (CLA) ridge, cleft lip and palate (CLP), and cleft palate only (CPO) except submucous cleft palate, were 10.97%, 18.29%, 56.09% and 14.63% in familial cases, and 12.82%, 23.32%, 39.06% and 24.78% in sporadic cases, respectively. There were statistical differences in the cleft types by chi-squared test ( p  = 0.038), odds ratios and 95%CI (OR = 0.84, 0.74, 1.99, 0.52; 95%CI, 0.39–1.79, 0.40–1.36, 1.22–3.24, 0.27–1.01, respectively). We also examined the distribution of the cleft side as well as the parental and neonatal status at delivery. However, we did not find any significant differences. Conclusion Familial occurrence might have an influence on the cleft types. Further research is needed to define the reasons for this influence.