Environmental Risk Factors Associated with Anorectal Malformations

Anorectal malformations (ARMs) are the most common congenital structural abnormalities of the digestive tract, with an incidence ranging from 1 in 5,000 to 1 in 1,000 live births. These defects are characterized by abnormal development of the rectum, anus, and surrounding structures. Although surgical procedures can reconstruct anatomical structures and the mortality rate is relatively low, postoperative care imposes significant economic and psychological burdens on affected families. These challenges can negatively impact the child’s mental health and quality of life, resulting in long-term adverse outcomes. The etiology and pathogenesis of ARMs are still not fully understood. This paper provides a comprehensive review of risk factors associated with ARM, focusing on maternal and genetic susceptibility. Empirical studies indicate that environmental conditions and maternal health during pregnancy may correlate with ARM incidence. Moreover, maternal lifestyle choices—such as smoking, alcohol consumption, and vitamin intake—are considered factors that influence susceptibility in offspring. Genetic studies have revealed associations between ARM susceptibility and several genes, including CDX2, Wnt, MNX1, GLI2, and Hedgehog. Future research should further explore the complex interactions between environmental and genetic factors, offering new avenues for early diagnosis, prevention, and treatment. Such research will deepen the understanding of ARM pathogenesis and provide an important basis for formulating targeted and effective prevention and control strategies, ultimately helping reduce incidence and improve patient outcomes.