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 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. 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. Anorectal Malformations & Hirschsprung’s Disease Sexual Support Website in English and Dutch (in collaboration with ERN ERNICA)EA 1.7 Urorectal/Anorectal Malformations
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Urorectal/Anorectal Malformations
