Relevant studies were considered according to their relevance to epigenetic regulation, gene-environment interactions, and translational implications in CDH.<h4>Results</h4>Aberrant DNA methylation, histone acetylation imbalance, and dysregulated miRNAs converge on key developmental pathways, including retinoic acid, TGF-β, and NF-κB signaling. The gene discussed is TGFB1; the disease is congenital diaphragmatic hernia.