Abstract
Human orofacial clefts (OFCs) are congenital anomalies that result from the breakdown of normal mechanisms that regulate the formation of the human face. They could be syndromic or non-syndromic, with a global incidence of 1:700 per live births. Environmental and genetic factors are thought to play various roles in the aetiology of OFCs. This study seeks to establish the diversity, distribution and pattern of inheritance of OFCs as well as environmental and other risk factors associated with OFCs in a Ghanaian population. A family-based, descriptive cross-sectional study that employed an interview-based survey questionnaire was used to obtain information from 467 families with history of OFCs. We employed chi-square statistics to analyse the data and used graphs to interpret the data. All previously reported subphenotypes of OFCs were observed by the present study. Clinically, about 12% of clefts in the study population were syndromic. The most common syndromic forms observed were Pierre Robin Sequence, cleft-with-club foot abnormalities and Van der Woude Syndrome. Only about 5% of clefts in the study cohort were familial. The study also established that lower level of education of parents, poverty, late antenatal care and dietary folate deficiency are major environmental factors associated with clefts in the Ghanaian population. In conclusion, OFCs are non-randomly distributed in Ghana and folate deficiency could likely be a source of genetic mutations and “epimutations” that cause OFCs, since folate is essential for DNA methylation, replication and repair as well as histone modification.
Highlights
Human orofacial clefts (OFCs) are congenital malformations of oral and facial structures
OFCs are non-randomly distributed in Ghana and folate deficiency could likely be a source of genetic mutations and “epimutations” that cause OFCs, since folate is essential for DNA methylation, replication and repair as well as histone modification
The study cohort exhibited some hallmarks of multifactorial inheritance: 95% of cleft patients had normal parents, cleft recurrence risk was higher among multiplex families, recurrence risk increased with the severity of the abnormality and consanguinity slightly increased the recurrence risk of clefts
Summary
Human orofacial clefts (OFCs) are congenital malformations of oral and facial structures. OFCs are among the most common birth defects with a global incidence of 1 per 700 live births [2]. Ethnicity, geographical locations, environmental factors and socio-economic status influence the distribution of OFCs [3]. Asians have the highest incidence of OFCs, followed by Europeans, with populations of African ancestry having the lowest incidence [2]. The incidence of OFCs differs by gender and laterality. A ratio of 2:1 male to female has been observed for CL whereas a ratio of 1:2 male to female has been reported for CP. A ratio of 2:1 left-sided to right-sided clefts has been observed among unilateral clefts [1]
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
