{"orpha":557,"name":"Non-syndromic anorectal malformation","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Non-syndromic ARM"],"definition":"A wide spectrum of malformations involving the distal anus and rectum as well as the urinary and genital tracts, which can affect boys and girls.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-557/","orphanet_url":"https://www.orpha.net/en/disease/detail/557","names":{"fr":{"name":"Malformation anorectale non syndromique","synonyms":["ARM non syndromique"],"definition":"Les malformations ano-rectales (MAR) recouvrent un large spectre de malformations pouvant affecter l'anus et le rectum ainsi que les tractus urinaire et génital ; elles peuvent atteindre les filles et les garçons."},"de":{"name":"Anorektale Fehlbildung, nicht-syndromale","synonyms":["Nicht-syndromale ARM"]},"es":{"name":"Malformación anorrectal no sindrómica","definition":"Es un amplio espectro de malformaciones que afectan al ano distal y al recto, así como a las vías urinarias y genitales, tanto en niños como en niñas."},"it":{"name":"Malformazione anorettale non sindromica","synonyms":["MAR non sindromica"]},"nl":{"name":"Niet-syndromale anorectale malformatie","synonyms":["Niet-syndromale ARM"],"definition":"Een breed spectrum van malformaties die distale anus en rectum, alsook urinewegen en voortplantingsstelsel aantasten, en die jongens en meisjes kunnen treffen."},"pt":{"name":"Malformação anoretal não-sindromática"},"pl":{"name":"Izolowana malformacja odbytu i odbytnicy","synonyms":["Non-syndromic ARM"]},"cs":{"name":"Izolované anorektální malformace","synonyms":["Non-syndromic ARM"]},"uk":{"name":"Несиндромна аноректальна вада розвитку","synonyms":["Несиндромальний АРМ"],"definition":"A wide spectrum of malformations involving the distal anus and rectum as well as the urinary and genital tracts, which can affect boys and girls."},"zh":{"name":"孤立型肛门直肠畸形","synonyms":["Non-syndromic ARM"]},"tr":{"name":"İzole anorektal malformasyon","synonyms":["Non-syndromic ARM"]}},"xrefs":[{"source":"OMIM","code":"107100","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"207500","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"301800","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-11","code":"LB17.0","qualifier":"NTBT","icd_relation":"specific","validated":true},{"source":"MONDO","code":"18916","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537771","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680419","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":171201,"name":"OBSOLETE: High isolated anorectal malformation","status":"inactive"},{"type":"Referred to","orpha":171208,"name":"OBSOLETE: Intermediate isolated anorectal malformation","status":"inactive"},{"type":"Referred to","orpha":171215,"name":"OBSOLETE: Low isolated anorectal malformation","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":96346,"name":"Anorectal malformation","classifications":[147,156,182,233]}],"children":[{"orpha":601033,"name":"Non-syndromic H-type fistula","type":"Morphological anomaly"},{"orpha":601008,"name":"Non-syndromic anal stenosis","type":"Morphological anomaly"},{"orpha":601002,"name":"Non-syndromic anorectal malformation without fistula","type":"Morphological anomaly"},{"orpha":600998,"name":"Non-syndromic cloacal malformation","type":"Morphological anomaly"},{"orpha":600952,"name":"Non-syndromic perineal fistula","type":"Morphological anomaly"},{"orpha":601013,"name":"Non-syndromic pouch colon","type":"Morphological anomaly"},{"orpha":601018,"name":"Non-syndromic rectal atresia","type":"Morphological anomaly"},{"orpha":601023,"name":"Non-syndromic rectal stenosis","type":"Morphological anomaly"},{"orpha":600961,"name":"Non-syndromic rectourethral fistula","type":"Morphological anomaly"},{"orpha":601028,"name":"Non-syndromic rectovaginal fistula","type":"Morphological anomaly"},{"orpha":600984,"name":"Non-syndromic rectovesical fistula","type":"Morphological anomaly"},{"orpha":600993,"name":"Non-syndromic vestibular fistula","type":"Morphological anomaly"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":20.0,"area":"Worldwide","status":"Validated","source":"17651510[PMID]_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":24.0,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2005-2009[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"6-9 / 10 000","value":78.0,"area":"Austria","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2006[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":26.2,"area":"Belgium","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":11.4,"area":"Croatia","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":21.3,"area":"Denmark","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":23.6,"area":"France","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":53.5,"area":"Germany","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":43.2,"area":"Hungary","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":28.9,"area":"Ireland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":11.3,"area":"Italy","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":29.2,"area":"Netherlands","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":29.5,"area":"Norway","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":11.6,"area":"Poland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.7,"area":"Portugal","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":13.8,"area":"Spain","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":49.0,"area":"Switzerland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":21.6,"area":"United Kingdom","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":28.6,"area":"Ukraine","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"6-9 / 10 000","value":60.8,"area":"Saudi Arabia","status":"Validated","source":"23232683[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}