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Anorectal malformation: the etiological factors

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Abstract

Anorectal malformation (ARM) is a congenital anomaly commonly encountered in pediatric surgery practice. Although surgical procedures correct the anatomical anomalies, the post-operative bowel function is not universally satisfactory. The etiology of ARM remains unclear. In this review, we summarize the current understanding of the genetic and epigenetic factors contributing to the pathogenesis of ARM, based on published animal models, human genetics and epidemiological researches. Appreciation of these factors may be helpful in the management of ARM in the future.

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Acknowledgments

The work was supported by Department of Pediatric Surgery, Capital Institute of Pediatrics, Beijing, People’s Republic of China. The author would like to thank Dr. Long Li and Dr. Wei Cheng for their support and mentorship. We also thank Dr. S. White from Monash Institute of Medical Research for his research advice.

Conflict of interest

The authors declare that they have no competing interests.

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Authors and Affiliations

  1. Department of Pediatric Surgery, Capital Institute of Pediatrics, No.2 Ya Bao Road, Beijing, 100020, People’s Republic of China

    Chen Wang & Long Li

  2. Peking union medical college, Beijing, People’s Republic of China

    Chen Wang

  3. Department of Surgery, United Family Hospital, Beijing, People’s Republic of China

    Wei Cheng

  4. Department of Pediatrics and Department of Surgery, Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Australia

    Wei Cheng

Authors
  1. Chen Wang
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  2. Long Li
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  3. Wei Cheng
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Correspondence to Long Li.

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Wang, C., Li, L. & Cheng, W. Anorectal malformation: the etiological factors. Pediatr Surg Int 31, 795–804 (2015). https://doi.org/10.1007/s00383-015-3685-0

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