Epigenetic Mechanisms in Cleft Lip and Palate: A Comprehensive Review of Current Insights and Future Perspectives

Summary:

Cleft lip and palate (CL/P), the most common craniofacial birth defect, affects approximately 1 in 500 live births in China. CL/P severely compromises facial aesthetics, physiological functions (eg, feeding, speech), and imposes significant psychological and economic burdens on patients and families. Genetic and environmental factors are known to contribute, but recent studies have added another layer: epigenetic dysregulation. This review summarizes recent advances in understanding epigenetic modifications—including DNA methylation, noncoding RNAs, histone modifications, and X-chromosome inactivation—in CL/P development. We discuss how these mechanisms interact with genetic and environmental factors to disrupt craniofacial morphogenesis, providing novel insights into diagnostic biomarkers and therapeutic strategies.