Anorectal malformation (ARM) is a congenital anomaly commonly encountered in pediatric surgery practice. Although surgical procedures correct the anatomical anomalies, the post-operative bowel function is not universally satisfactory. The etiology of ARM remains unclear. In this review, we summarize the current understanding of the genetic and epigenetic factors contributing to the pathogenesis of ARM, based on published animal models, human genetics and epidemiological researches. Appreciation of these factors may be helpful in the management of ARM in the future.