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Anorectal malformations

Nature Reviews Disease Primers volume 10, Article number: 88 (2024) Cite this article

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Abstract

Anorectal malformations (ARM) are rare congenital anomalies with an overall prevalence of 3.32 per 10,000 pregnancies. ARM describe a spectrum of anomalies of the anus and rectum ranging from a minimally displaced anal canal to a complete fusion of the anorectum, vagina and urethra with hypoplastic sphincter and pelvic floor muscle. Aberrant septation of the hindgut with anomalous cloacal membrane during weeks 6 to 9 of gestation form the developmental basis for a spectrum of anomalies defined as ARM. Although underlying specific syndromes and occasional familiar occurrence suggest genetic aetiology, most ARM are non-syndromic and their causal genetic mechanisms and non-genetic insults remain unclear. ARM is a clinical diagnosis, generally made early after birth via careful inspection of the perineum. Prenatal detection remains rare, and modern technical developments have added little to prenatal diagnostics. ARM is corrected surgically. Since its introduction in 1982, posterior sagittal anorectoplasty is the most common surgery for ARM reconstruction. Subsequent surgical adaptations focus on minimizing iatrogenic operative injury by limiting surgical invasiveness. They include laparoscopic procedures and shortening of incisions with confined dissection in open surgery. Although outcomes in patients with ARM have evolved throughout the past decades, there is urgent need for further improvements both in functional outcomes and quality of life. The importance of psychosocial experiences of affected patients is increasingly recognized. Continued research is necessary to improve prenatal detection, to elucidate genetic and epigenetic alterations and to refine optimal surgical procedures.

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Fig. 1: Spectrum of anatomic anomalies in ARM in newborns.
Fig. 2: Development of the hindgut in anorectal malformation.
Fig. 3: Human and mouse embryological development of the hindgut.
Fig. 4: Perineal view of different anorectal malformations.
Fig. 5: Cross-table lateral plain radiography to determine the end of the rectum in a newborn.
Fig. 6: Management algorithms for ARM.
Fig. 7: High-pressure colostogram X-ray images of male newborns with an anorectal malformation.
Fig. 8: Cloaca and bladder neck fistula in newborns, before and after surgery.

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Acknowledgements

The authors thank the anonymous patient for their contribution in Box. 1.

Author information

Authors and Affiliations

  1. Department of Surgery, Division of Paediatric Surgery, Radboudumc-Amalia Children’s Hospital, Nijmegen, the Netherlands

    Ivo de Blaauw

  2. Department of Paediatric Surgery, Institution of Clinical Sciences, Lund university, Skane University Hospital, Lund, Sweden

    Pernilla Stenström

  3. Department of Paediatric General and Urogenital Surgery, Juntendo University School of Medicine, Tokyo, Japan

    Atsuyuki Yamataka & Yuichiro Miyake

  4. Division of Neonatology and Paediatric Intensive Care, Department of Paediatrics and Adolescent Medicine, University Hospital Erlangen, Erlangen, Germany

    Heiko Reutter

  5. Paediatric Surgery Unit, Cà Foncello Hospital, Treviso, Italy

    Paola Midrio

  6. Department of Paediatric Colorectal and Pelvic Reconstructive Surgery, Nationwide Children’s Hospital, Columbus, OH, USA

    Richard Wood

  7. Department of Psychology, Sapienza University of Rome, Rome, Italy

    Caterina Grano

  8. Department of Paediatric Surgery, Helsinki University Central Hospital, Helsinki, Finland

    Mikko Pakarinen

  9. Department of Women’s and Children’s Health, Karolinska Institute, Stockholm, Sweden

    Mikko Pakarinen

Authors
  1. Ivo de Blaauw
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  2. Pernilla Stenström
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  3. Atsuyuki Yamataka
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  4. Yuichiro Miyake
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  6. Paola Midrio
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  7. Richard Wood
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  8. Caterina Grano
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  9. Mikko Pakarinen
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Contributions

Introduction (I.d.B. and M.P.); Epidemiology (P.S., I.d.B. and H.R.); Mechanisms/pathophysiology (H.R., Y.M., A.Y. and I.d.B.); Diagnosis, screening and prevention (P.M., M.P. and P.S.); Management (R.W., M.P., P.M. and P.S.); Quality of life (C.G., I.d.B. and M.P.); Outlook (M.P. and I.d.B.); overview of the Primer (I.d.B.).

Corresponding author

Correspondence to Ivo de Blaauw.

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The authors declare no competing interests.

Peer review

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Nature Reviews Disease Primers thanks Y. Z. Bai, S. King, and the other, anonymous, reviewer(s) for their contribution to the peer review of this work.

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Informed consent

The authors affirm that human research participants provided informed consent, for publication of the patient’s experience described in Box 2 and for the publication of the images displayed in Fig. 4.

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

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