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Anorectal Malformations

Anorectal malformations (ARMs) have a reported prevalence of 3.32 per 10,000 pregnancies (roughly 1 in 3,000) and span a spectrum from a minimally displaced anal canal to complete fusion of the anorectum, vagina and urethra.[1] The urologic burden is lifelong and rises with malformation complexity; transition of care is poorly systematized.

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 were present in 65% of males and 56% of females in a 712-patient pediatric cohort, and their frequency rose with ARM complexity.[2] Common findings include hydronephrosis, vesicoureteral reflux (VUR), solitary kidney, renal ectopia or fusion, hypospadias, and undescended testes.[2] Males with recto-bladder-neck fistulae and females with cloacal malformations (especially long common channels) had the highest incidence, and spinal cord anomalies (44% on spinal MRI in a 117-patient series) may contribute to neurogenic bladder.[2][3] In that series, protocolized screening detected 88% of the urologic anomalies and clinical follow-up detected the remaining 12.9%, so screening of the urinary tract and spine at diagnosis is followed by continued clinical surveillance.[3]

Currarino syndrome is a specific anorectal/sacral pattern to recognize: sacral agenesis (often a "scimitar" hemisacrum), anorectal malformation, and a presacral mass such as an anterior meningocele or teratoma, most often dominantly inherited through the HLXB9/MNX1 locus.[38][39] An incomplete presentation can come to attention through urinary symptoms rather than the classic triad; an atonic, compliant bladder managed with clean intermittent catheterization has been described in an affected patient, which should prompt spinal and presacral imaging in an ARM patient with an unexplained neurogenic-appearing bladder rather than being treated as an expected phenotype of the syndrome.[38]

Long-Term Urologic Sequelae​

DomainAdult picture
Lower urinary tract dysfunction / incontinenceAcross 12 studies of 455 patients aged ≥10 years with ARM excluding cloaca, urinary incontinence ranged from 1.7% to 30.5%[43]. Separate adult surveys found urinary incontinence in 11/67 (16.4%) male respondents with ARM or Hirschsprung disease, while 47% of female-born respondents with cloaca versus 22.2% with other ARM reported leakage without physical activity or need to urinate[4][5]. Neurogenic bladder from spinal anomalies may require CIC or augmentation[4][5]. A dedicated cloaca-only continence cohort (152 girls ≥3 years old) gives a continence-mechanism breakdown: 61.2% met the study’s dryness criterion (<1 daytime accident per week); 47% voided per urethra (65% of them dry); over 40% performed CIC (over 80% of them dry); 13.1% had an incontinent urinary diversion (vesicostomy or enterovesicostomy); and 12.5% required bladder augmentation. A spinal cord abnormality was associated with need for CIC, and a normal spine with spontaneous voiding and dryness[34]. Which continence mechanism a patient ended up with traces partly to how the original cloacal repair separated the urinary tract from the vagina and rectum: total urogenital mobilization, used for a short common channel with adequate native urethral length, preserves and reuses that urethra, while a longer channel or a short native urethra is managed instead with formal urogenital separation and a reconstructed urethra, which carries a different stricture and continence profile to watch for in adulthood[41]
Renal impairmentRenal disease was concentrated in complex malformations in selected adult cohorts; one female-born ARM/Hirschsprung survey reported CKD/ESRD in 7/66 respondents (including one excluded from urinary-symptom analyses because of ureterostomies) and transplantation in 3/66; all three transplant recipients had cloaca[4][5]. An older pediatric cloaca-only series (n = 64; ages 0.5–19 years) reported chronic renal failure with GFR <80 mL/min/1.73m² in 32/64 (50%; GFR measured in 38/64), 17% with end-stage renal failure, 6% requiring transplant and 6% who died of renal failure; a separate single-center pediatric cloaca cohort managed under a renal-protection protocol (regular labs, individualized mobilization versus separation, proactive imaging, and early catheterization teaching) reported renal dysfunction at last follow-up in 6/105 (5.7%) and progression from normal presenting function in 3/105 (2.9%) over median follow-up of 4.2 years. Its endpoint was CKD stage 3b or worse, renal replacement therapy, or transplant; these cohorts have different endpoints and follow-up and cannot be compared directly.[35][36]
Recurrent UTIUTI was reported more often with sacral ratios of 0.4–0.69 than with ratios of 0.7 or higher (57.9% vs 25.8%) in adult males[4]. A distinct anatomic cause after posterior sagittal anorectoplasty for a rectourethral fistula: incomplete rectal mobilization proximal to its entry into the urinary tract can leave a remnant of the original fistula (ROOF) — a urethral pseudodiverticulum of retained rectal mucosa. A ROOF can impede catheterization and cause UTI (including epididymo-orchitis), urinary dribbling, mucosuria and hematuria, and is not the same entity as sacral-ratio-driven bladder dysfunction; in an adult with prior ARM repair and these symptoms, ROOF should be considered; a pediatric referral series recommends pelvic MRI plus cystoscopy because either alone missed cases, while VCUG was less reliable.[37] In a 29-patient ARM-Net series of males with epididymo-orchitis, 20 had recurrent episodes; VUR, urethral anomalies, and neurogenic bladder were present in 48%, 41%, and 41%, respectively, supporting urologic evaluation for these abnormalities.[45]
Sexual / fertilitySome degree of erectile dysfunction in 35.3% of IIEF-5 respondents in a survey of 48 adult males with ARM or Hirschsprung disease; absent ejaculation or azoospermia in 3/20 (15%) males with rectourethral fistula; delayed coital debut in all groups; in an observational survey of 30 respondents assigned female at birth with cloacal malformations and 21 with other ARM, quality-of-life scores were 80.4 versus 87.0, with similar sexual function[6][7][8]. For women with ARM and an abnormal perineum, the 2025 ERN eUROGEN guideline recommends perineal examination before conception and throughout pregnancy, ARM-experienced gynecologic care during pregnancy, and individualized delivery planning (ungraded).[48]
Occult unsafe bladder12/41 asymptomatic male children after high-ARM repair had unsafe urodynamic findings in one prospective study; symptoms alone may miss risk, and adult testing frequency was not assessed[9]
Pubertal uterine outflow obstruction (cloaca)In a retrospective review of 41 postpubertal patients treated for persistent cloaca, 15 (36%) presented with hematometra/hematocolpos and all required surgery (vaginoplasty, partial hysterectomy, or hysterectomy); causes included vaginal stenosis after reconstruction, stenosis of an unreconstructed persistent urogenital sinus, and cervical stenosis. A uterus judged absent or vestigial at early laparotomy later developed function at puberty in 6 of 10 such patients, so the series authors advised reassessing uterine function by ultrasound/MRI and vaginoscopy at early puberty; the 2025 ERN guideline recommends lower-abdominal ultrasound around menarche when symptoms occur (ungraded)[40][42]

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​

ARM differs from the other transitional conditions in how tightly bowel and bladder management are coupled, and the urologist often co-manages both. Patients with concurrent sacral agenesis are the prototype: in a 2026 retrospective pediatric cohort, CIC was started in 18/41 and 22/33 children aged at least 4 years used transanal irrigation.[10]

This coupling shapes reconstruction:

  • Combined antegrade continence enema (ACE/Malone) and catheterizable bladder channel can be created in a single operation, letting the patient manage both systems through abdominal stomas.[11]
  • For adults with NLUTD and detrusor overactivity or poor bladder compliance who are refractory to or intolerant of less invasive therapies, AUA/SUFU says clinicians may offer augmentation cystoplasty in selected patients (Statement 51; Conditional Recommendation, Grade C). 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 (Statement 58; Expert Opinion); cystoscopy for gross hematuria or symptomatic recurrent UTI after bowel reconstruction (Statement 60; Moderate Recommendation, Grade C), rather than screening or surveillance cystoscopy (Statement 19; Strong Recommendation, Grade B).[12]
  • Urodynamic evaluation. The 2025 ERN eUROGEN guideline recommends studies for every ARM patient with spinal cord dysraphism and for children with high suspicion of neurogenic bladder (grade D), to assess upper-tract risk and detrusor and sphincter function.[42] In a prospective study of 41 asymptomatic boys after high-ARM repair, 12 had unsafe urodynamic findings.[9]

Bowel Management (Urology-Relevant Overview)​

Bowel management is lifelong and stepwise. It is co-managed with colorectal surgery and shares the catheterizable-channel platform, so the reconstructive urologist needs to understand its logic. 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.[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 with or without 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.[18][19][20]
  • Retrograde enemas and irrigation can be the initial bowel-management regimen when bowel-control potential is absent, or can address persistent soiling after laxatives[13][18]; volumes and additives depend on anatomy and phenotype. Phosphate-containing enemas can cause severe electrolyte disturbances, particularly with renal impairment or prolonged retention.[46] In a single-center retrospective cohort of children with ARM, 150 were clean one year after a bowel-management program (reported as 70.4%); the cohort began with 222 children and included enema and laxative regimens.[28][18][28]
  • Antegrade continence enema (ACE/Malone) is used 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.[22] A separate 163-patient series reported 96% successful incontinence management and complications in 41 patients, illustrating how cohort definitions affect estimates.[21] Counsel about stomal stenosis, leakage, revisions, and ongoing dependence on an irrigation program.[18][21][22]
  • Persistent incontinence after repair. For specific persistent incontinence problems, the 2025 ERN eUROGEN guideline advises considering redo surgery with an experienced ARM surgeon or center (grade C).[44]
  • Permanent colostomy is a last resort when redo surgery is unsuitable; 16/136 (12%) of one adult ARM cohort had one.[44][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.[26][27] In a single-center retrospective bowel-management cohort, children who were clean at one year had improved quality-of-life and voiding-dysfunction scores from baseline.[28]

Psychiatric diagnoses and histories of substance-use disorder were common in a mixed-diagnosis tertiary-care cohort:

  • 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.[29]
  • A cross-sectional study of 98 adults associated fecal incontinence with poorer physical and mental health-related quality of life and lower self-efficacy.[30]
  • A review of reports on patients aged 0–21 years with ARM or Hirschsprung disease grouped psychosocial concerns by developmental stage; in a separate review of adult ARM literature, sexual anxiety and navigating complex health systems were the most commonly reported psychological and social challenges.[31][32]

Bowel management is optimized 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​

Among 96 of 236 delegates at two international colorectal surgery meetings who completed a survey, 72% had no transition protocol, 82% held no multidisciplinary meeting with adult providers, 33% routinely ended follow-up before age 10, and 42% felt their patients were not ready to transition.[14] In the same survey, 54% of respondents thought transition should start around age 13–16.[14] The ARM-Net Consortium consensus calls for early, structured transition with pediatric and adult clinicians.[15] The August 2025 combined ERN eUROGEN ARM guideline recommends structured lifelong follow-up (ungraded), a personalized plan at the start of transition (grade D), and collaboration between pediatric and adult specialists (grade C); transition planning typically starts at ages 12–14.[42][47]

The general transition machinery (readiness tools, joint clinics, coordinators, barriers) is shared across congenital urology; see the Transitional Urology hub.[16][17] Proposed ARM-specific transition approaches include joint pediatric–adult clinics, patient self-advocacy, adult-provider education, and collaborative urology–colorectal–gynecology care.[17][24][25]

Key Principles​

  • Urologic anomalies were found in 65% of boys and 56% of girls in a 712-child ARM cohort and became more frequent with increasing malformation complexity.[2] Recto-bladder-neck fistula and cloaca had the highest incidence of associated urologic anomalies in the 712-child cohort, and spinal anomalies 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 and 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 surveyed practitioners had no transition protocol; the ARM-Net consensus calls for a structured multidisciplinary handoff.[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

34. Morin JP, Srinivas S, Wood RJ, Dajusta DG, Fuchs ME. "Bladder Management and Continence in Girls With Cloacal Malformation After 3 Years of Age." J Pediatr Surg. 2024;59(8):1647-1651. doi:10.1016/j.jpedsurg.2024.04.010

35. Warne SA, Wilcox DT, Ledermann SE, Ransley PG. "Renal Outcome in Patients With Cloaca." J Urol. 2002;167(6):2548-2551. doi:10.1016/s0022-5347(05)65034-3. PMID 11992086

36. Srinivas S, Morin JP, Bergus KC, et al. "Following a Strict Renal Protection Protocol in Cloacal Malformations: A Descriptive Analysis." J Pediatr Urol. 2024;20(4):725.e1-725.e7. doi:10.1016/j.jpurol.2024.06.026

37. Rentea RM, Halleran DR, Vilanova-Sanchez A, et al. "Diagnosis and Management of a Remnant of the Original Fistula (ROOF) in Males Following Surgery for Anorectal Malformations." J Pediatr Surg. 2019;54(10):1988-1992. doi:10.1016/j.jpedsurg.2019.02.006

38. Currarino G, Coln D, Votteler T. "Triad of Anorectal, Sacral, and Presacral Anomalies." AJR Am J Roentgenol. 1981;137(2):395-398. doi:10.2214/ajr.137.2.395

39. Ross AJ, Ruiz-Perez V, Wang Y, et al. "A Homeobox Gene, HLXB9, Is the Major Locus for Dominantly Inherited Sacral Agenesis." Nat Genet. 1998;20(4):358-361. doi:10.1038/3828

40. Warne SA, Wilcox DT, Creighton S, Ransley PG. "Long-Term Gynecological Outcome of Patients with Persistent Cloaca." J Urol. 2003;170(4 Pt 2):1493-1496. doi:10.1097/01.ju.0000086702.87930.c2

41. Whittam B, Szymanski KM, Rink RC. Surgical Management of Differences of Sexual Differentiation and Cloacal and Anorectal Malformations. In: Partin AW, Dmochowski RR, Kavoussi LR, Peters CA, eds. Campbell-Walsh-Wein Urology. 13th ed. Elsevier; 2025:1254-1278.

42. Aubert O, Irvine WFE, Aminoff D, et al. "ERN eUROGEN Guidelines on the Management of Anorectal Malformations Part III: Lifelong Follow-up and Transition of Care." Eur J Pediatr Surg. 2025;35(2):120-127. doi:10.1055/s-0044-1791249

43. Springford LR, Connor MJ, Jones K, et al. "Prevalence of Active Long-term Problems in Patients With Anorectal Malformations: A Systematic Review." Dis Colon Rectum. 2016;59(6):570-580. doi:10.1097/DCR.0000000000000576

44. Aubert O, Irvine WFE, Aminoff D, et al. "European Reference Network eUROGEN Guidelines on the Management of Anorectal Malformations, Part II: Treatment." Eur J Pediatr Surg. 2025;35(2):112-119. doi:10.1055/s-0044-1791257

45. Morandi A, Fanjul M, Iacobelli BD, et al. "Urological Impact of Epididymo-orchitis in Patients with Anorectal Malformation: An ARM-Net Consortium Study." Eur J Pediatr Surg. 2022;32(6):504-511. doi:10.1055/s-0042-1742300

46. Smith RH, Eddleston M, Bateman DN. "Toxicity of phosphate enemas - an updated review." Clin Toxicol (Phila). 2022;60(6):672-680. doi:10.1080/15563650.2022.2054424

47. ERN eUROGEN. "Clinical Practice Guideline on Anorectal Malformations (ARM): Adapted from the Dutch Quality Standard for Anorectal Malformations." August 2025. Guideline PDF

48. Aubert O, Irvine WFE, Aminoff D, et al. "ERN eUROGEN Guidelines on the Management of Anorectal Malformations Part I: Diagnostics." Eur J Pediatr Surg. 2025;35(2):104-111. doi:10.1055/s-0044-1791250