Urorectal/Anorectal Malformations

Expertise
Workstream 1
Workstream 2
Workstream 3
Patient Information

EA 1.7 Urorectal/Anorectal Malformations

Urorectal/anorectal malformations refer to a group of congenital anomalies affecting the development of the urinary and/or digestive systems, resulting in abnormalities in how urine and faeces are eliminated from the body. These malformations can involve various parts of the urinary and/or digestive tract, such as the bladder, urethra, genital organs, rectum, and anus. Urorectal/anorectal malformations are typically diagnosed soon after birth and may require surgical intervention to correct. The severity and specific type of urorectal malformation can vary widely, and some cases may be associated with other birth defects or genetic syndromes.

NOTE: ERN eUROGEN and ERN ERNICA, the European Reference Network for rare Inherited and Congenital (digestive and gastrointestinal) Anomalies, overlap in clinical scope for Hirschsprung’s disease and Anorectal Malformations. ERN eUROGEN covers Anorectal Malformations, while ERN ERNICA addresses Hirschsprung’s disease. ERN ERNICA’s coverage for Hirschsprung’s is available on their website.

Expertise Area Coordinator and Vice-EAC

Expertise Area Coordinator:

Ivo de Blaauw

Vice-EAC:

Martin Lacher

Conditions and Codes

Non-syndromic anorectal malformation: ORPHAcode 557 / ICD-10 Code Q42.0, Q42.1, Q42.2, Q42.3
with perineal fistula: ORPHAcode 600952
with rectourethral fistula, unknown type: ORPHAcode 600961
with rectourethral fistula, bulbar type: ORPHAcode 600966
with rectourethral fistula, prostatic type: ORPHAcode 600975
with rectovesical fistula: ORPHAcode 600984
with vestibular fistula: ORPHAcode 600993
without fistula: ORPHAcode 601002
with anal stenosis: ORPHAcode 601008
with pouch colon: ORPHAcode 601013
with rectal atresia: ORPHAcode 601018
with rectal stenosis: ORPHAcode 601023
with rectovaginal fistula: ORPHAcode 601028
with H-type fistula: ORPHAcode 601033
Non-syndromic cloacal malformation: ORPHAcode 600998
Anal fistula: ORPHAcode 228113 / ICD-10 Code K60.3
VACTERL/VATER association: ORPHAcode 887 / ICD-10 Code Q87.2

Healthcare Providers

BE Antwerp UZ, BE Leuven UZ, DE Berlin Charité, DE Munich LMUK, DE Bremen-Mitte Klinik, DE Leipzig UK, DE Mannheim UK, DE Aachen UK, DK Aarhus DNU, DK Copenhagen Rigshospitalet, ES Barcelona Sant Joan, ES Madrid La Paz, ES Barcelona Fundació Puigvert, FI Helsinki HUS, FR Paris Necker, IT Bergamo Papa Giovanni XXIII, IT Padua AOU, IT Bologna AOU, IT Milan Policlinico, IT Rome Bambino Gesu, LT Vilnius SK, LV Riga BKUS, NL Amsterdam AMC, NL Groningen UMC, NL Rotterdam Erasmus, NL Nijmegen Radboudumc, PL Gdansk MUG, PL Krakow USD, SE Stockholm Karolinska, SE Gothenburg Sahlgrenska, SE Lund SUS

Guidelines

An ERN eUROGEN Expert Working Group adapted existing Dutch guidelines on anorectal malformations (ARM). Work began with guidance from the agency assigned to ERN eUROGEN by the Spanish consortium appointed by the European Commission to facilitate ERN guidelines. Once this support ended, Qualicura supported ERN eUROGEN’s experts to ensure the highest scientific quality was in place throughout the methodology to produce the adapted clinical practice guideline (CPG) on ARM. Our European experts, including patient representatives, have thoroughly reviewed this.

Part one of the work on diagnosis and treatment is available here.

Part two of the work on follow-up and transition is available here.

Patient Information

Patient Journey

ERN eUROGEN Patient Journey for Anorectal Malformation (ARM) (FULL VERSION) – This document provides an overview of important stages throughout the patient’s life, from the first signs and symptoms to diagnosis, surgery, and aftercare in the early years, from school age to adolescence, and to issues sometimes faced in adulthood. It also highlights the multidisciplinary approach required for optimal care and underscores the importance of community and patient support groups.

ERN eUROGEN Patient Journey for Anorectal Malformation (ARM) (SHORT BROCHURE VERSION) – This document is a short brochure version of the above full document that may be more accessible. Further resources are signposted through hyperlinks and QR codes, enabling the brochure to be used in both electronic and print formats.

International ARM Patient Organisations – a downloadable list of international patient organisations for anorectal malformations and Hirschprung’s disease.

Many thanks to ERN eUROGEN European Patient Advocacy Group (ePAG) representatives Nicole Schwarzer (SoMA e.V.), Dalia Aminoff (AIMAR), and Kate Tyler (EAT) for their tremendous efforts in pulling together these materials.

Support Website

Anorectal Malformations & Hirschsprung’s Disease Sexual Support Website in English and Dutch (in collaboration with ERN ERNICA)

Additional Resources

Anorectal Malformations. Disease InfoSearch page and Genetic and Rare Diseases Information Center page.
ARM-Net. The ARM-Net Consortium is a group of professionals and patient representatives that aim to exchange data and knowledge to improve clinical care and to perform research on congenital anorectal malformations.
Pull-thru Network, Inc. The Pull-thru Network is an international volunteer-based organisation dedicated to providing education, information, support and advocacy for those individuals, and the families of those individuals, who are affected by any congenital anorectal, colorectal or urogenital disorder and any of the variety of related diagnoses.
Sexual Support for Anorectal Malformations & Hirschsprung’s Disease. A website available in English and Dutch, developed in close collaboration with patients and specialist practitioners in the Netherlands for patients, their parents, healthcare professionals, and other relations.
TOFS. Working towards a world in which those born with OA/TOF and VACTERL live long and healthy lives, unconstrained by the impact of being born with these conditions.
- Joe’s IA/ARM Story. Joe shares his story of being an adult born with IA/ARM. (Spring 2023 edition of TOFS Chew Magazine)
- Shaun’s OA/TOF Story. Shaun shares his story of being an adult born with OA/TOF and VACTERL symptoms. (+ article in Spring 2023 edition of TOFS Chew Magazine)
- Max’s Trust Annual Conference – Report by Kate Tyler (Winter 2022 edition of TOFS Chew Magazine)
VACTERL/VATER association. Disease InfoSearch page and Genetic and Rare Diseases Information Center page.