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: Ivo de Blaauw Vice-EAC: Martin Lacher 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 Clinical Practice Guidelines for Anorectal Malformations (ARM) have been developed by ERN eUROGEN experts and patient representatives, ensuring high scientific quality and patient-centred care. ERN eUROGEN and partners have created a range of patient information resources for Anorectal Malformations, including Patient Journeys (full text, brochure, and audio), and sexual health support materials.EA 1.7 Urorectal/Anorectal Malformations
Expertise Area Coordinator and Vice-EAC
Conditions and Codes
Healthcare Providers
Guidelines
Patient Information
Additional Resources