Cleft lip sidedness and the association with additional congenital malformations

Abstract

AbstractObjectiveTo investigate the association between the sidedness of orofacial clefts and additional congenital malformations.DesignLinkage of a national registry of cleft births to national administrative data of hospital admissionsSettingNational Health Service, EnglandParticipants2,007 children born with cleft lip +-alveolus (CL+-A) and 2,724 with cleft lip and palate (CLP) born between 2000 and 2012.Main outcome measureThe proportion of children with ICD-10 codes for additional congenital malformations by the sidedness (left, right or bilateral) of orofacial clefts.ResultsFor CL+-A phenotypes, there was no evidence for a difference in the prevalence of additional anomalies between left (22%, reference), right (22%, aOR 1.02, 95% CI 0.80 to 1.28; p= 0.90) and bilateral clefts (23%, aOR 1.09, 95% CI 0.75 to 1.57; p= 0.66). For CLP phenotypes, there was evidence of a lower prevalence of additional malformations in left (23%, reference) compared to right (32%, aOR 1.54, 95% CI 1.25 to 1.91; p <0.001) and bilateral clefts (33%, aOR 1.64, 95% CI 1.35 to 1.99; p<0.001).ConclusionsThe prevalence of additional congenital malformations was similar across sidedness subtypes with CL+-A phenotypes but was different for sidedness subtypes within CLP cases. These data support the hypothesis that CL+-A has a different underlying aetiology from CLP and that within the CLP phenotype, right sided CLP may lie closer in aetiology to bilateral CLP than it does to left sided CLP.