ARM in ARM? Investigating the co-occurrence of anorectal malformations and labioscrotal anomalies.

Clinical Snapshot

Key Findings

• P Value: Not reported

• Effect Size: Descriptive proportions only — no comparative effect size calculable. Complex ARMs: 58.4% associated with a single LSA; 'High' ARMs: 66.0% associated with a single LSA; 'Low' ARMs: 77.0% associated with a single LSA. Complex ARMs had proportionally the highest number of associated LSAs per case.

• Primary Outcome: Co-occurrence of labioscrotal anomalies (LSAs) in patients with anorectal malformations (ARMs): 319 individual cases identified across 144 included studies demonstrating simultaneous ARM and LSA

• Nnt Or Sensitivity: Not applicable — descriptive systematic review without diagnostic test evaluation or therapeutic intervention. No NNT, sensitivity, specificity, or hazard ratio calculable from available data.

• Confidence Interval: Not reported — no inferential statistics presented

Clinical Application

Screening for LSAs in ARM patients requires thorough genitourinary examination at birth and during neonatal/paediatric surgical workup — this is clinically feasible within existing multidisciplinary ARM care pathways. No additional diagnostic technology is required beyond careful physical examination and targeted imaging where indicated. Integration into existing ARM multidisciplinary team (MDT) frameworks is straightforward. In Australia, ARMs are managed within specialist paediatric surgical centres (e.g., The Royal Children's Hospital Melbourne, Sydney Children's Hospital, Queensland Children's Hospital) with established MDT frameworks. The RACGP and paediatric surgical societies support structured anomaly screening in complex congenital conditions. LSAs such as cryptorchidism and hypospadias are already subject to neonatal screening recommendations in Australia; this review supports formalising their assessment within ARM-specific care pathways. No PBS or TGA implications arise directly from this review, as the intervention is clinical screening rather than pharmacotherapy or a regulated device. Relevant to Australian paediatric surgery training curricula and ARM registry data collection (e.g., APSA and ANZAPS registries). All paediatric patients diagnosed with any type of anorectal malformation (complex, high, or low), regardless of sex. Clinicians should maintain heightened vigilance for co-occurring labioscrotal anomalies including cryptorchidism, hypospadias, labial fusion, and related genitourinary structural defects at initial assessment and during surgical planning.

Abstract

Anorectal malformations (ARMs) are known to be associated with other defects, however there is no evidence addressing the co-occurrence of ARMs with anomalies of structures derived from the labioscrotal folds. We performed a systematic review (Prospero: CRD420251013945) aiming at investigating correlations and patterns between ARMs and labioscrotal anomalies (LSAs), when presenting simultaneously. Our search identified 1642 articles. After abstract screening, 344 full texts were assessed and 144 met the inclusion criteria. In total, these reported on 319 individual cases with both ARM and LSA. Individuals with complex ARMs had proportionally the most LSAs associated with their ARM - 58.4% of these were associated with only a single LSA. For 'high' and 'low' ARMs, 66.0% and 77.0% of cases were associated with a single LSA respectively. As data reporting prevalence of each type of ARM lacks information about LSAs, the potential to predict the presence of LSAs according to type of ARM is limited. Nevertheless, this review demonstrates a frequent association of ARMs with LSAs, that has not been previously described. This evidence highlights the importance of early screening and timely management of LSAs in patients with any type of ARM, with close collaboration between paediatric surgeons, urologists and other clinicians.

References

1. 1.Sharman, P. G. G., Randazzo, M., Jones, I., & Jester, I. (2026). ARM in ARM? Investigating the co-occurrence of anorectal malformations and labioscrotal anomalies. Pediatric Surgery International. https://doi.org/10.1111/ceo.13075