Research Topic

Current Concepts in Anorectal Malformation and Hirschsprung's Disease

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In the European Union, rare diseases are defined as those conditions that affect less than 1 in 2000 people. Anorectal malformations fall into this category, with an estimated incidence of 1 in 5000 affected persons.

Despite the significant progress initiated by Peña and DeVries with the ...

In the European Union, rare diseases are defined as those conditions that affect less than 1 in 2000 people. Anorectal malformations fall into this category, with an estimated incidence of 1 in 5000 affected persons.

Despite the significant progress initiated by Peña and DeVries with the introduction of the posterior sagittal anorectoplasty (PSARP) technique in 1982, much remains to be accomplished.


Outcome research is undergoing a data revolution, with institutions learning that not enough data can be gathered without meaningful cooperation and data sharing. The best techniques remain controversial and vary by country and even nomenclature and have not yet completely matured, with likely changes coming in the future.

Anorectal malformations not only pose a significant surgical challenge, but also require extensive follow-up, bowel management techniques, appropriate urological approaches, and in many cases gynecological care, to reach a maximum potential in fecal and urinary cleanliness and function.
Outcomes remain challenging to measure and compare as very few validated tools exist to measure continence. In most cases, the success of the surgery is reported by the surgeon with varying degrees of accuracy and in fewer cases by the patients and their experiences with gains in life quality.
The popularity of this field has surged among pediatric surgeons as one of the few classical pediatric surgical fields that have no direct counterpart in adult surgery. This effect has been magnified thanks to the excellent communicative and public awareness work accomplished by Dr. Marc Levitt and his group.

Two initiatives that may positively influence the development in the field are the initiative to create a pediatric surgical subspecialization in this area and to create interinstitutional networks of centers treating this disease.

Centralization into a few centers with the expertise and the numbers to treat these conditions is necessary in the future and has the potential to improve outcomes and reduce the social and financial burdens caused by this group of malformations.

In this research topic, we aim to unify the currently accepted standards as a collection that can be used to base and guide future research in this area.


Keywords: ARM, Hirschsprung, Pelvic Reconstruction, Incontinence, Cloaca


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