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Quantification of Orofacial Phenotypes in Xenopus
Published on: November 6, 2014
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Orofacial clefts embryology, classification, epidemiology, and genetics
Ghenwa Nasreddine1, Joelle El Hajj1, Michella Ghassibe-Sabbagh1
1Department of Natural Sciences, School of Arts and Sciences, Lebanese American University, P.O. Box: 13-5053, Chouran, 1102 2801, Beirut, Lebanon.
Mutation Research. Reviews in Mutation Research
|June 4, 2021
Summary
Orofacial clefts (OFCs) are common birth defects impacting head and neck development. This review covers OFC embryology, genetics, and epidemiology, highlighting recent genetic research.
Area of Science:
- Medical Genetics
- Developmental Biology
- Public Health
Background:
- Orofacial clefts (OFCs) are the second most common congenital birth defect in the U.S. and the most frequent head and neck malformation.
- OFCs encompass cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO).
- These conditions impose significant psychological and socio-economic burdens, necessitating multidisciplinary care.
Purpose of the Study:
- To provide a comprehensive review of orofacial clefts.
- To detail the embryology, classification, epidemiology, and etiology of OFCs.
- To present recent advancements in the genetics of OFCs.
Main Methods:
- Literature review of embryology, classification, epidemiology, and etiology.
- Synthesis of current research on the genetic factors contributing to OFCs.
- Analysis of recent genetic findings in the context of OFC development.
Main Results:
- OFCs result from a complex interplay between genetic and environmental factors.
- Recent genetic studies are elucidating specific pathways and genes involved in OFC development.
- A detailed understanding of OFC etiology is crucial for effective management.
Conclusions:
- Orofacial clefts are multifactorial congenital anomalies with significant health implications.
- Advances in genetics offer new insights into OFC pathogenesis.
- Continued research is vital for improving prevention and treatment strategies for OFCs.
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