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. You can find out which of our Healthcare Providers have expertise in this area on our Workstreams & Expertise page. 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. ERN eUROGEN has developed a Clinical Practice Guideline (CPG) for anorectal malformations. You can access it from our guidelines page. ERN eUROGEN has developed patient information on anorectal malformations, including a list of international patient organisations, which is available on our patient information page. 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. ➡️ ARM-NetUrorectal/Anorectal Malformations (ERN eUROGEN EA 1.7)
Expertise Area Coordinator: Ivo de Blaauw
Vice-EAC: Martin Lacher
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