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Updated: Jun 24, 2025

Quantification of Orofacial Phenotypes in Xenopus
Published on: November 6, 2014
Cleft lip Sidedness and the Association with Additional Congenital Malformations
Matthew Fell1,2, Kate J Fitzsimons3, Mark J Hamilton4
1Spires Cleft Centre, John Radcliffe Hospital, Oxford, UK.
Insights
The prevalence of additional congenital malformations in cleft lip +/- alveolus (CL +/- A) cases did not differ by cleft side. However, right-sided and bilateral cleft lip and palate (CLP) cases showed higher rates of additional anomalies compared to left-sided CLP.
Area of Science:
- Medical research
- Genetics
- Pediatrics
Background:
- Orofacial clefts are common birth defects.
- The sidedness of clefts (left, right, or bilateral) may be associated with other congenital anomalies.
- Understanding these associations can provide insights into underlying etiologies.
Purpose of the Study:
- To investigate the association between the sidedness of orofacial clefts and the occurrence of additional congenital malformations.
- To compare the prevalence of associated anomalies across left, right, and bilateral cleft lip +/- alveolus (CL +/- A) and cleft lip and palate (CLP) phenotypes.
Main Methods:
- Utilized linkage of a national cleft birth registry with national hospital admission data in England.
- Analyzed data from 2007 children with CL +/- A and 2724 children with CLP born between 2000 and 2012.
- Determined the proportion of children with ICD-10 codes for additional congenital malformations based on cleft sidedness.
Main Results:
- For CL +/- A, no significant difference in additional malformation prevalence was found between left (22%), right (22%), and bilateral (23%) clefts.
- For CLP, left-sided clefts (23%) had a lower prevalence of additional malformations compared to right-sided (32%) and bilateral (33%) clefts.
- Statistical analysis showed significant differences for CLP (P < .001 for both right and bilateral vs. left).
Conclusions:
- The prevalence of additional congenital malformations varied by sidedness within CLP cases but not within CL +/- A cases.
- Findings suggest distinct underlying etiologies for CL +/- A and CLP.
- The etiology of right-sided CLP may be more similar to bilateral CLP than to left-sided CLP.
Abstract:
ObjectiveTo 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, EnglandParticipants2007 children born with cleft lip ± alveolus (CL ± A) and 2724 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 = .90) and bilateral clefts (23%, aOR 1.09, 95% CI 0.75 to 1.57; P = .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 < .001) and bilateral clefts (33%, aOR 1.64, 95% CI 1.35 to 1.99; P < .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.
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