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Anorectal Malformations

Anorectal malformations (ARMs) occur in roughly 1 in 4,000–5,000 live births and span a spectrum from a simple perineal fistula to a complex cloacal malformation.[1] They matter in transitional urology because the urologic burden is lifelong and rises with malformation complexity — yet these patients are among the least systematically transitioned in all of congenital urology.

This page covers the ARM-specific adult and transitional urological problems and the bowel–bladder intersection that defines them. For the general transition framework see Transitional Urology; for the neurogenic-bladder management ladder see Neurogenic Bladder; for the operative detail of catheterizable channels and augmentation see Catheterizable Channels and Bladder Augmentation.

Associated Urologic Anomalies​

Urologic anomalies are present in 50–65% of ARM patients, with prevalence rising in proportion to ARM complexity.[2] Common findings include hydronephrosis, vesicoureteral reflux (VUR), solitary kidney, renal ectopia/fusion, hypospadias, and undescended testes.[2] Males with recto-bladder-neck fistulae and females with cloacal malformations (especially long common channels) carry the highest urologic co-morbidity, and spinal cord anomalies — found in up to 44% — may contribute to neurogenic bladder.[2][3] Screening of the urinary tract and spine is therefore mandatory at diagnosis and informs lifelong risk.[3]

Long-Term Urologic Sequelae​

DomainAdult picture
Lower urinary tract dysfunction / incontinenceReported in 1.7–30.5% of adults, far higher in cloacal malformations; neurogenic bladder from spinal anomalies may require CIC or augmentation[4][5]
Renal impairmentRenal disease was concentrated in complex malformations in selected adult cohorts; one female-born ARM/Hirschsprung cohort reported CKD/ESRD in 7/64 and transplantation in 3/64, mostly among patients with cloaca[4][5]
Recurrent UTISignificantly elevated with low sacral ratios (0.4–0.69)[4]
Sexual / fertilityErectile dysfunction in ~35% of adult males; absent ejaculation/azoospermia in ~15% with rectourethral fistula; delayed coital debut across subtypes; cloacal women report lower QoL and incontinence affecting sexual well-being[6][7][8]
Occult unsafe bladder12/41 asymptomatic male children after high-ARM repair had unsafe urodynamic findings in one prospective study; symptoms alone may miss risk, but this does not establish a universal adult testing schedule[9]

The reconstructive/functional urologist's lifelong goals are renal preservation (upper-tract surveillance, especially with VUR, solitary kidney, or prior augmentation), safe low-pressure storage (urodynamics, CIC, neurogenic-bladder management), lifelong follow-up after augmentation with investigation of concerning symptoms, and proactive sexual-health and fertility counseling.[4][9]

The Bowel–Bladder Intersection​

What distinguishes ARM from the other transitional conditions is how tightly bowel and bladder management are coupled — and how often the urologist co-owns both. Patients with concurrent sacral agenesis are the prototype: in a 2026 pediatric cohort, 18/41 used CIC and 22/33 children aged at least 4 years used transanal irrigation. These are different denominators, not rates from an unselected adult ARM population.[10]

This coupling shapes reconstruction:

  • Combined antegrade continence enema (ACE/Malone) + catheterizable bladder channel can be created in a single operation, letting the patient manage both systems through abdominal stomas.[11]
  • For neurogenic bladder refractory to antimuscarinics or botulinum toxin, augmentation cystoplasty is an option for selected patients with refractory unsafe storage. It requires lifelong renal/metabolic and complication follow-up. The AUA/SUFU guidance applies to adult NLUTD: annual clinical review, a basic metabolic panel, and urinary tract imaging after bowel reconstruction; cystoscopy for concerning symptoms such as gross hematuria or symptomatic recurrent UTI, rather than routine screening of asymptomatic patients.[12]
  • Urodynamic evaluation should address suspected unsafe storage or emptying and help establish risk in complex ARM, particularly with spinal/upper-tract abnormalities or absent prior bladder assessment. The pediatric high-ARM study supports looking beyond symptoms; it does not define the frequency of repeat studies in every asymptomatic adult.[9]

Bowel Management (Urology-Relevant Overview)​

Bowel management is a lifelong, individualized, stepwise endeavor; the reconstructive urologist should understand its logic because it is co-managed with colorectal surgery and shares the catheterizable-channel platform. For persistent postoperative defecatory dysfunction, first review the anatomy and prior repair, using contrast imaging and examination under anesthesia when needed to assess a stricture, mislocated anus, prolapse, or fistula. This is not a requirement for anesthesia before treating every uncomplicated episode of constipation.[13][18] The clinical history, examination, and selected contrast imaging help distinguish phenotypes that guide treatment:[18]

  • Hypomotile / constipation-predominant (dilated colon, paradoxically commoner in "simpler" malformations) → stimulant laxatives ± large-volume enemas.
  • Hypermotile / diarrhea-predominant (non-dilated colon, often after resection) → small-volume saline enemas, anti-motility agents, constipating diet.

Escalation ladder:

  • Laxatives for constipation with continence potential — senna is commonly used within specialist programs, with dosing titrated to emptying, stool consistency, and adverse effects. A small 2017 randomized crossover trial favored senna over polyethylene glycol, but a 2025 crossover trial in 15 children, with 21 days per treatment, found no significant efficacy or preference difference among sennosides, magnesium hydroxide, and polyethylene glycol. These small trials do not establish universal senna superiority or treatment equivalence.[18][19][20]
  • Retrograde enemas/irrigation within a structured bowel-management program when laxatives do not achieve satisfactory emptying and cleanliness; volumes and additives depend on anatomy and phenotype. A review reports approximately 70% continence at one year in a structured program, which is not a universal success rate.[18]
  • Antegrade continence enema (ACE/Malone) for independence or when a retrograde program is unsuccessful or impractical. A 2026 systematic review of 19 studies/696 children with ARM reported continence in 404/479 with available outcome data and complications in 128/474 with available complication data; heterogeneous definitions and follow-up limit a single durable success estimate. A separate 163-patient series reported 96% successful incontinence management and complications in 41 patients, illustrating how cohort definitions affect estimates. Counsel about stomal stenosis, leakage, revisions, and ongoing dependence on an irrigation program.[18][21][22]
  • Permanent colostomy as last resort — carried by ~12% of one adult ARM cohort.[23]

Psychosocial Burden and Quality of Life​

Continence is an important correlate of quality of life in ARM. Adult and pediatric patient-reported studies associate soiling with poorer bowel-related quality of life; they do not establish one strongest modifiable determinant across all patients or prove that a particular intervention improves mental health.[26][27] A pediatric bowel-management cohort reported improved quality-of-life and voiding-dysfunction scores at one year; the observational design does not isolate a causal treatment effect.[28]

The psychiatric burden is high and under-recognized:

  • In a selected tertiary-care cohort of 81 adults with mixed congenital colorectal/pelvic diagnoses, 51.9% had a recorded psychiatric diagnosis and 30.9% a substance-use disorder. These are not population prevalence estimates for ARM alone.[29]
  • A cross-sectional study of 98 adults associated fecal incontinence, self-efficacy, and health-related quality of life. Its statistical model does not prove that changing self-efficacy mediates improvement or that continence treatment alone resolves psychological distress.[30]
  • Stressors are developmentally staged; in adulthood the dominant psychological challenge is psychosexual anxiety and the dominant practical one is navigating complex health systems ; these findings support attention to transition barriers without attributing all distress to one cause.[31][32]

The implication for transitional care is concrete: optimize bowel management alongside assessment and treatment of mental-health needs. Screening for depression, anxiety, and substance use and access to social work/psychology are appropriate components of comprehensive transition care; continence care does not replace them.[29][33]

Transition of Care​

ARM transition is poorly systematized: in an international survey 72% of practitioners had no transition protocol, 82% held no multidisciplinary meeting with adult providers, 33% of centers stopped follow-up before age 10, and 42% felt their patients were not ready to transition.[14] The ARM-Net Consortium recommends beginning transition around age 13–16 with a structured multidisciplinary approach spanning urology, colorectal surgery, gynecology, nephrology, and psychosocial support.[15]

The general transition machinery (readiness tools, joint clinics, coordinators, barriers) is shared across congenital urology — see the Transitional Urology hub.[16][17] Effective ARM-specific solutions are joint pediatric-adult clinics, fostering patient self-advocacy, educating adult providers, and collaborative urology–colorectal–gynecology co-management through the transition window.[24][25]

Key Principles​

  • Urologic anomalies accompany 50–65% of ARMs and scale with complexity; recto-bladder-neck fistula and cloaca carry the highest renal/bladder morbidity, and spinal anomalies (up to 44%) may contribute to neurogenic dysfunction.[2][3]
  • Symptoms alone do not establish bladder safety — 12/41 asymptomatic boys in a high-ARM cohort had unsafe urodynamic findings; establish adult testing needs from anatomy, prior assessments, and current risk.[9]
  • Bowel and bladder are coupled — combined ACE + catheterizable channel through abdominal stomas is the reconstructive expression of that coupling.[10][11]
  • Match bowel treatment to phenotype and patient goals — laxatives, retrograde irrigation, ACE, and selected diversion have different roles; the small laxative trials do not establish one universally superior agent.[18][19][20]
  • Address continence and mental health together — high psychiatric burden in selected referral cohorts supports integrated care, not extrapolation of those percentages to all adults with ARM.[27][29]
  • Transition is poorly systematized — most centers lack a protocol; a structured multidisciplinary handoff is the fix.[14][15]

See Also​

References​

1. de Blaauw I, Stenström P, Yamataka A, et al. "Anorectal Malformations." Nat Rev Dis Primers. 2024;10(1):88. doi:10.1038/s41572-024-00574-2

2. Fuchs ME, Halleran DR, Bourgeois T, et al. "Correlation of Anorectal Malformation Complexity and Associated Urologic Abnormalities." J Pediatr Surg. 2021;56(11):1988-1992. doi:10.1016/j.jpedsurg.2021.02.051

3. Duci M, Midrio P, Castagnetti M, et al. "Urinary Tract Anomalies in Patients With Anorectal Malformations: The Role of Screening and Clinical Follow-Up." Urology. 2020;143:216-220. doi:10.1016/j.urology.2020.05.052

4. Reppucci ML, Wehrli LA, Wilcox D, et al. "Patient-Reported Urinary Outcomes in Adult Males With Congenital Colorectal Conditions." Pediatr Surg Int. 2022;38(12):1709-1716. doi:10.1007/s00383-022-05215-x

5. Wehrli LA, Harris KT, Wood DT, et al. "Urological Outcomes in Adult Females Born With Anorectal Malformation or Hirschsprung Disease." Pediatr Surg Int. 2024;40(1):179. doi:10.1007/s00383-024-05766-1

6. Kyrklund K, Taskinen S, Rintala RJ, Pakarinen MP. "Sexual Function, Fertility and Quality of Life After Modern Treatment of Anorectal Malformations." J Urol. 2016;196(6):1741-1746. doi:10.1016/j.juro.2016.08.079

7. Trinidad S, Garrison A, Encisco EM, et al. "Long-Term Male Sexual Function and Fecal Incontinence Outcomes for Adult Patients With Hirschsprung Disease or Anorectal Malformation." J Pediatr Surg. 2023;58(8):1573-1577. doi:10.1016/j.jpedsurg.2023.04.006

8. Ahmad H, Knaus ME, Gasior AC, et al. "Sexual and Reproductive Health Outcomes in Females With Cloacal Malformations and Other Anorectal Malformations." J Pediatr Adolesc Gynecol. 2023;36(2):148-154. doi:10.1016/j.jpag.2022.10.008

9. Binu V, Dash V, Bawa M, Kanojia RP, Samujh R. "Role of Urodynamics in Male Patients of High-Anorectal Malformations: A Prospective Study." Pediatr Surg Int. 2021;37(4):461-468. doi:10.1007/s00383-020-04835-5

10. Theeuwes JN, de Beaufort CMC, McDonald CJ, et al. "Bowel and Bladder Outcomes in Patients With Anorectal Malformations and Sacral Agenesis: A Retrospective Cohort Study." Pediatr Surg Int. 2026;42(1):244. doi:10.1007/s00383-026-06471-x

11. Bischoff A, Bealer J, Peña A. "Controversies in Anorectal Malformations." Lancet Child Adolesc Health. 2017;1(4):323-330. doi:10.1016/S2352-4642(17)30026-3

12. Ginsberg DA, Boone TB, Cameron AP, et al. "The AUA/SUFU Guideline on Adult Neurogenic Lower Urinary Tract Dysfunction: Treatment and Follow-Up." J Urol. 2021;206(5):1106-1113. doi:10.1097/JU.0000000000002239

13. Peña A, Guardino K, Tovilla JM, et al. "Bowel Management for Fecal Incontinence in Patients With Anorectal Malformations." J Pediatr Surg. 1998;33(1):133-137. doi:10.1016/s0022-3468(98)90380-3

14. Giuliani S, Decker E, Leva E, Riccipetitoni G, Bagolan P. "Long Term Follow-Up and Transition of Care in Anorectal Malformations: An International Survey." J Pediatr Surg. 2016;51(9):1450-1457. doi:10.1016/j.jpedsurg.2016.03.011

15. Giuliani S, Grano C, Aminoff D, et al. "Transition of Care in Patients With Anorectal Malformations: Consensus by the ARM-net Consortium." J Pediatr Surg. 2017;52(11):1866-1872. doi:10.1016/j.jpedsurg.2017.06.008

16. Peycelon M, Misseri R. "The Basics of Transition in Congenital Lifelong Urology." World J Urol. 2021;39(4):993-1001. doi:10.1007/s00345-020-03116-z

17. Plascevic J, Shah S, Tan YW. "Transitional Care in Anorectal Malformation and Hirschsprung's Disease: A Systematic Review of Challenges and Solutions." J Pediatr Surg. 2024;59(6):1019-1027. doi:10.1016/j.jpedsurg.2023.10.066

18. Ambartsumyan L. "Medical Management of Anorectal Malformations." Aliment Pharmacol Ther. 2024;60(Suppl 1):S77-S84. doi:10.1111/apt.17897

19. Santos-Jasso KA, Arredondo-García JL, Maza-Vallejos J, Lezama-Del Valle P. "Effectiveness of Senna vs Polyethylene Glycol as Laxative Therapy in Children With Constipation Related to Anorectal Malformation." J Pediatr Surg. 2017;52(1):84-88. doi:10.1016/j.jpedsurg.2016.10.021

20. Nate-Anong B, Khorana J, Chantakhow S, Singhavejsakul J, Tepmalai K. "Sennosides vs Magnesium Hydroxide vs Polyethylene Glycol as a Treatment for Constipation in Anorectal Malformation: A Randomized Crossover Trial." Pediatr Surg Int. 2025;41(1):268. doi:10.1007/s00383-025-06174-9

21. Rangel SJ, Lawal TA, Bischoff A, et al. "The Appendix as a Conduit for Antegrade Continence Enemas in Patients With Anorectal Malformations: Lessons Learned From 163 Cases Treated Over 18 Years." J Pediatr Surg. 2011;46(6):1236-1242. doi:10.1016/j.jpedsurg.2011.03.060

22. Lane R, Comella A, Trajanovska M, King SK. "Long Term Outcomes of the Antegrade Continence Enema in Children With an Anorectal Malformation — A Systematic Review." J Pediatr Surg. 2026;61(8):163203. doi:10.1016/j.jpedsurg.2026.163203

23. Danielson J, Karlbom U, Graf W, Wester T. "Outcome in Adults With Anorectal Malformations in Relation to Modern Classification — Which Patients Do We Need to Follow Beyond Childhood?" J Pediatr Surg. 2017;52(3):463-468. doi:10.1016/j.jpedsurg.2016.10.051

24. Gasior A, Midrio P, Aminoff D, Stanton M. "Ongoing Care for the Patient With an Anorectal Malformation; Transitioning to Adulthood." Semin Pediatr Surg. 2020;29(6):150991. doi:10.1016/j.sempedsurg.2020.150991

25. Skerritt C, DaJusta DG, Fuchs ME, et al. "Long-Term Urologic and Gynecologic Follow-Up and the Importance of Collaboration for Patients With Anorectal Malformations." Semin Pediatr Surg. 2020;29(6):150987. doi:10.1016/j.sempedsurg.2020.150987

26. Wehrli LA, Reppucci ML, De La Torre L, et al. "Gastrointestinal Quality of Life and Bowel Function in Adults Born With Anorectal Malformation and Hirschsprung Disease." Pediatr Surg Int. 2023;39(1):234. doi:10.1007/s00383-023-05516-9

27. Wood RJ, Srinivas S, Trajanovska M, et al. "Patient-Reported Outcomes of Children With an Anorectal Malformation." Ann Surg. 2026;283(6):1106-1111. doi:10.1097/SLA.0000000000006606

28. Wood RJ, Vilanova-Sanchez A, El-Gohary Y, et al. "One-Year Impact of a Bowel Management Program in Treating Fecal Incontinence in Patients With Anorectal Malformations." J Pediatr Surg. 2021;56(10):1689-1693. doi:10.1016/j.jpedsurg.2021.04.029

29. Bilgili UZ, Ore AS, Canizares S, et al. "Understanding the Long-Term Psychosocial and Healthcare Needs of Adults With Congenital Colorectal and Pelvic Malformations." Dis Colon Rectum. 2025. doi:10.1097/DCR.0000000000003951

30. Grano C, Fernandes M, Bucci S, et al. "Self-Efficacy Beliefs, Faecal Incontinence and Health-Related Quality of Life in Patients Born With Anorectal Malformations." Colorectal Dis. 2018;20(8):711-718. doi:10.1111/codi.14259

31. Svetanoff WJ, Kapalu CL, Lopez JJ, et al. "Psychosocial Factors Affecting Quality of Life in Patients With Anorectal Malformation and Hirschsprung Disease — a Qualitative Systematic Review." J Pediatr Surg. 2022;57(3):387-393. doi:10.1016/j.jpedsurg.2021.05.004

32. Rane E, Bloom J, Chan XWC, Harris P. "Anorectal Malformation in Adulthood: A Systematic Review of Biological, Psychological, and Sociological Outcomes and Experiences." Pediatr Surg Int. 2026;42(1):191. doi:10.1007/s00383-026-06424-4

33. Cairo SB, Gasior A, Rollins MD, Rothstein DH. "Challenges in Transition of Care for Patients With Anorectal Malformations: A Systematic Review and Recommendations for Comprehensive Care." Dis Colon Rectum. 2018;61(3):390-399. doi:10.1097/DCR.0000000000001033