Identification of Possible Maternal Risk Factors for Development of Syndromic Oro-Facial Clefts

Abstract

Context: The concept “epigenetics” highlights that environmental factors are able to trigger changes in gene activity. This confounds the search for aetiological factors of syndromic oro-facial clefts as it interplays between genetics and environmental stimulation. Subjects and Methods: The study makes use of a database of syndromic cleft patients over 33 years at the Department of Maxillo-Facial and Oral Surgery at the University of Pretoria. The ten most common clefting syndromes (Fairbairn-Robin triad, Demarque van der Woude syndrome, Holoprosencephaly, Naso-maxillo-acro dysostosis (Binder’s syndrome), Goldenhar syndrome, Treacher-Collins syndrome, Trisomy 13 (Patau’s syndrome), P63 Mutation associated clefting disorders, Trisomy 21 (Down’s syndrome), Oro-Facial Digital syndromes) were included amounting to 517 patients. The nine most common maternal risk factors (Unknown Infection, Viral Infection, HIV, Medication, Smoking, Alcohol, Oligohydramnios, Vitamins, Hormones) were included totaling 398. Results: Fairbairn-Robin triad had a significant correlation with oligohydramnios, infection and medication. Demarque-van der Woude syndrome presented with a significant contribution from medication and Holoprosencephaly showed a significant correlation with vitamin supplementation. Conclusion: based on the results of this study Fairbairn-Robin triad appears to have a strong environmental component to the presentation thereof. Demarque-van der Woude was indicated to having a genetic-environmental interplay contributing to the presentation of the syndrome.