Eur J Pediatr Surg 2021; 31(06): 482-491
DOI: 10.1055/s-0041-1740338
Review Article

Genetic Counseling and Diagnostics in Anorectal Malformation

1   Department of Clinical Genetics, Radboudumc, Nijmegen, the Netherlands
Gabriel Dworschak
2   Department of Pediatrics, University Hospital Bonn Center of Paediatrics, Bonn, Nordrhein-Westfalen, Germany
3   Institute of Human Genetics, University Hospital Bonn, Bonn, Nordrhein-Westfalen, Germany
4   Department of Pediatric Surgery, Radboud Medical Centre, Nijmegen, the Netherlands
Iris A.L.M. van Rooij
5   Department for Health Evidence, Radboud University Medical Center, Nijmegen, the Netherlands
› Author Affiliations


Anorectal malformation (ARM) is a relatively frequently occurring congenital anomaly of hindgut development with a prevalence of 1 in 3,000 live births. ARM may present as an isolated anomaly, but it can also be associated with other anomalies, sometimes as part of a recognizable syndrome. After birth, much medical attention is given to the treatment and restoring of bowel function in children with ARM. Effort should also be given to studying the etiology of the ARM in these patients. This information is important to both the medical community and the family, because it can help guide treatment and provides information on the long-term prognosis of the patient and recurrence risk in the family.

In this article, we will review the current knowledge on the (genetic) etiology of (syndromic) ARM and provide guidelines for (family) history taking and clinical and genetic studies of ARM patients and their families, which is needed to study the causal factors in an ARM patient and for genetic counseling of the families.

Publication History

Received: 26 October 2021

Accepted: 01 November 2021

Publication Date:
15 December 2021 (online)

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