Meta-analysis of Genetic Factors Responsible for Syndromic Anorectal Malformations in Children

Abstract

Aim Anorectal malformation (ARM) is a congenital malformation that affects the anus or rectum area in children with an average age of 4 years. Different types of ARM are observed in males and females, each with distinct characteristics. The malformation is generally detected in the postnatal period, with a mortality rate between 3% and 16%. The study is conducted to understand the clinical significance of the mutation in the genes that are responsible for enhanced incidences of syndromes and their direct correlation with ARM. Methods Meta-analysis was performed using MedCalc statistical software, and we explored a strong association between ARM and syndromes using an odds ratio with a 95% confidence interval (CI). Results In total, 18 syndromes were found with the clinical characteristics of ARM. A maximum number of cases were reported about Currarino syndrome, with the minimum and maximum association of 30% and 100%, respectively. The results obtained for the pooled studies were I2 = 92.85%, P value ≤ .0001, and CI = 91.36-94.08. Conclusion A strong association has been identified between ARM and various congenital syndromes, highlighting the fact that genetic factors play a significant role in its occurrence. This association can help in the early diagnosis of the anomaly so that proper management can be presented at the earliest.