Urorectal/Anorectal Malformations

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

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.

👉 Access the ARM Guidelines here

Patient Information

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.

👉 Explore ARM Patient Information here

Additional Resources