Anorectal Malformations

  • Kristiina Kyrklund
  • Risto RintalaEmail author


Despite significant improvement in the knowledge on anatomy and physiology of the anorectal malformations and major developments in the surgical techniques used to repair these defects, the care of these patients remains challenging. Following successful neonatal repair, the bowel function outcome in patients with mild defects is very similar to that of healthy children. On the other hand, many patients with more severe defects suffer from deficient bowel control that may extend to adulthood. More than half of the patients with anorectal malformations have associated anomalies that commonly affect the overall management and quality of life of these patients. This chapter concentrates on the diagnostic features of anorectal malformations, neonatal management, modalities of repair and post-operative management during infancy.


Anorectal malformations Imperforate anus Cloaca Neonatal management Surgical management 


  1. 1.
    Rintala RJ, Pakarinen MP. Imperforate anus: long- and short-term outcome. Semin Pediatr Surg. 2008;17:79–89.CrossRefGoogle Scholar
  2. 2.
    Kluth D. Embryology of anorectal malformations. Semin Pediatr Surg. 2010;19:201–8.CrossRefGoogle Scholar
  3. 3.
    Herman RS, Teitelbaum DH. Anorectal malformations. Clin Perinatol. 2012;39:403–22.CrossRefGoogle Scholar
  4. 4.
    Iwai N, Fumino S. Surgical treatment of anorectal malformations. Surg Today. 2013;43:955–62.CrossRefGoogle Scholar
  5. 5.
    Boocock GR, Donnai D. Anorectal malformations: familial aspects and associated anomalies. Arch Dis Child. 1987;62:576–9.CrossRefGoogle Scholar
  6. 6.
    Wijers CH, de Blaauw I, Marcelis CL, Wijnen RM, Brunner H, Midrio P, et al. Research perspectives in the etiology of congenital anorectal malformations using data of the international consortium on anorectal malformations: evidence for risk factors across different populations. Pediatr Surg Int. 2010;26:1093–9.CrossRefGoogle Scholar
  7. 7.
    Cuschieri A, EUROCAT working group. Anorectal anomalies associated with or as part of other anomalies. Am J Med Genet. 2002;110:122–30.CrossRefGoogle Scholar
  8. 8.
    Rintala RJ. Anorectal malformations – management and outcome. Semin Neonatol. 1996;1:219–30.CrossRefGoogle Scholar
  9. 9.
    Davies RQ, Rode H. Anorectal malformations in children. In: Holschneider AM, Hutson J, editors. . Berlin: Springer Publication; 2006. p. 65–86.Google Scholar
  10. 10.
    Sinnatamby CS, editor. Last’s anatomy, regional and applied. 10th ed. London: Churchill Livingstone Publication; 2001. p. 283–309.Google Scholar
  11. 11.
    Meunier P, Mollard P. Control of the internal anal spnincter (manometric study with human subects). Pflugers Arch. 1977;370:233.CrossRefGoogle Scholar
  12. 12.
    Lamprecht W, Lierse W. The internal sphincter in anorectal malformations: morphologic investigations in neonatal pigs. J Pediatr Surg. 1987;22:1160–8.CrossRefGoogle Scholar
  13. 13.
    Holschneider A, Hutson J, Peña A, Bekhit E, Chatterjee S, Coran A, et al. Preliminary report on the International Conference for the development of standards for the treatment of anorectal malformations. J Pediatr Surg. 2005;40:1521–5126.CrossRefGoogle Scholar
  14. 14.
    Peña A. Anorectal malformations. Semin Pediatr Surg. 1995;4:35–47.PubMedGoogle Scholar
  15. 15.
    Stephens FD, Smith ED. Classification, identification and assessment of surgical treatment of anorectal anomalies. Pediatr Surg Int. 1986;1:200–5.CrossRefGoogle Scholar
  16. 16.
    Pakarinen MP, Rintala RJ. Management and outcome of low anorectal malformations. Pediatr Surg Int. 2010;26:1057–63.CrossRefGoogle Scholar
  17. 17.
    Kyrklund K, Pakarinen MP, Taskinen S, Rintala RJ. Bowel function and lower urinary tract symptoms in males with low anorectal malformations. An update of controlled, long-term outcomes. J Pediatr Surg. 2015;30:221–8.Google Scholar
  18. 18.
    Pakarinen MP, Goyal A, Koivusalo A, Baillie C, Turnock R, Rintala RJ. Functional outcome in correction of perineal fistula in boys with anoplasty versus posterior sagittal anorectoplasty. Pediatr Surg Int. 2006;22:961–5.CrossRefGoogle Scholar
  19. 19.
    Levitt MA, Peña A. Anorectal malformations. Orphanet J Rare Dis. 2007;2:33.CrossRefGoogle Scholar
  20. 20.
    Levitt MA, Peña A. Correction: anorectal malformations. Orphanet J Rare Dis. 2012;7:98.CrossRefGoogle Scholar
  21. 21.
    Gupta DK, Sharma S. Rectal atresia and rectal ectasia. In: Holschneider AM, Hutson J, editors. Anorectal malformations in children. Berlin: Springer Publication; 2006. p. 223–30.Google Scholar
  22. 22.
    Kyrklund K, Pakarinen MP, Taskinen S, Rintala RJ. Bowel function and lower urinary tract symptoms in females with anterior anus treated conservatively: outcomes up to adulthood. J Pediatr Surg. 2015;50:1168–73.CrossRefGoogle Scholar
  23. 23.
    Kyrklund K, Pakarinen MP, Koivusalo A, Rintala RJ. Bowel functional outcomes in females with perineal or vestibular fistula treated with anterior sagittal anorectoplasty: controlled results into adulthood. Dis Colon Rectum. 2015;58:97–103.CrossRefGoogle Scholar
  24. 24.
    Wakhlu A, Kureel SN, Tandon RK, Wakhlu AK. Long-term results of anterior sagittal anorectoplasty for the treatment of vestibular fistula. J Pediatr Surg. 2008;44:1913–9.CrossRefGoogle Scholar
  25. 25.
    Kumar B, Kandpal DK, Sharma SB, Agarwal LD, Jhamiraya VN. Single-stage repair of vestibular and perineal fistulae without colostomy. J Pediatr Surg. 2008;43:1818–952.Google Scholar
  26. 26.
    De Vries PA, Peña A. Posterior sagittal anorectoplasty. J Pediatr Surg. 1982;17:638–43.CrossRefGoogle Scholar
  27. 27.
    Kyrklund K, Pakarinen MP, Koivusalo A, Rintala RJ. Long-term bowel functional outcomes in rectourethral fistula treated with PSARP: controlled results after 4–29 years of follow-up. J Pediatr Surg. 2014;49:1635–42.CrossRefGoogle Scholar
  28. 28.
    Kyrklund K, Pakarinen MP, Rintala RJ. Manometric findings in relation to functional outcomes in different types of anorectal malformations. J Pediatr Surg. 2017;52:563–8.CrossRefGoogle Scholar
  29. 29.
    Georgeson K, Inge TH, Albanese CT. Laparoscopic-assisted anorectal pull-through for high imperforate anus – a new technique. J Pediatr Surg. 2000;35:927–30.CrossRefGoogle Scholar
  30. 30.
    Holschneider AM, Scharbatke H. In: Holschneider AM, Hutson J, editors. Anorectal malformations in children. Berlin: Springer Publication; 2006. p. 201–9.Google Scholar
  31. 31.
    Levitt MA, Peña A. Cloacal malformations: lessons learned from 490 cases. Semin Pediatr Surg. 2010;19:128–38.CrossRefGoogle Scholar
  32. 32.
    Rintala RJ. Cloaca: long-term follow-up results with emphasis on outcomes beyond childhood. Semin Pediatr Surg. 2016;25:112–6.CrossRefGoogle Scholar
  33. 33.
    Kyrklund K, Taskinen S, Rintala RJ, Pakarinen MP. Sexual function, fertility and quality of life after modern treatment of anorectal malformations. J Urol. 2016;196:1741–6.CrossRefGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Department of Pediatric Surgery, Children’s HospitalHelsinki University Central HospitalHelsinkiFinland

Personalised recommendations