{"orpha":294969,"name":"Isolated amelia of lower limb","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated congenital absence of lower limb"],"definition":"A rare, non-syndromic limb reduction defect characterized by complete or near-complete congenital absence of one (unilateral) or both (bilateral) of the lower extremities, occurring due to an intrauterine insult during the very early stages of embryonic development. It may be an isolated anomaly, but is more commonly observed in combination with multiple other congenital malformations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-294969/","orphanet_url":"https://www.orpha.net/en/disease/detail/294969","names":{"fr":{"name":"Amélie isolée des membres inférieurs","synonyms":["Agénésie isolée congénitale des membres inférieurs"],"definition":"Anomalie réductionnelle des membres non syndromique rare, caractérisée par l'absence congénitale complète ou quasi-complète de l'un (unilatérale) ou des deux (bilatérale) membres inférieurs, due à une agression intra-utérine à un stade très précoce du développement embryonnaire. Cette anomalie peut être isolée, mais elle est plus fréquemment observée en association avec de multiples autres malformations congénitales."},"de":{"name":"Isolierte Amelie der unteren Extremitäten","synonyms":["Isoliertes angeborenes Fehlen der unteren Gliedmaßen"],"definition":"Ein seltener, nicht-syndromaler Gliedmaßen-Reduktionsdefekt, der durch vollständiges oder nahezu vollständiges angeborenes Fehlen der unteren Extremitäten (unilateral oder bilateral) gekennzeichnet ist und durch einen intrauterinen Insult in den sehr frühen Stadien der Embryonalentwicklung verursacht wird. Es kann sich um eine isolierte Anomalie handeln, wird aber häufiger in Kombination mit mehreren anderen angeborenen Fehlbildungen beobachtet."},"es":{"name":"Amelia aislada de las extremidades inferiores","synonyms":["Ausencia congénita aislada de las extremidades inferiores"],"definition":"Es un defecto no sindrómico poco frecuente de reducción de las extremidades caracterizado por la ausencia congénita, pudiendo ser completa o casi completa, de una (unilateral) o ambas (bilateral) de las extremidades inferiores, a consecuencia de un fallo intrauterino en las primeras etapas del desarrollo embrionario. Puede ser una anomalía aislada, aunque se observa con mayor frecuencia asociada a otras malformaciones congénitas múltiples."},"it":{"name":"Amelia degli arti inferiori isolata","synonyms":["Assenza congenita isolata degli arti inferiori"],"definition":"È un difetto non sindromico raro da riduzione degli arti, caratterizzato da aplasia congenita completa o pressoché completa di uno (monolaterale) o entrambi (bilaterale) gli arti inferiori, secondaria ad un danno intrauterino durante le prime fasi di sviluppo dell'embrione. Può essere isolata, ma più spesso si associa ad altri difetti congeniti multipli."},"nl":{"name":"Geïsoleerde amelie van onderste ledemaat","synonyms":["Geïsoleerde congenitale afwezigheid van onderste ledemaat"],"definition":"Een zeldzaam, niet-syndromaal ledemaatreductiedefect dat gekarakteriseerd wordt door volledige of bijna volledige, congenitale afwezigheid van één (unilateraal) of beide (bilateraal) onderste ledematen als gevolg van een intra-uterien defect tijdens de zeer vroege stadia van de embryonale ontwikkeling. Het kan voorkomen als een geïsoleerde anomalie, maar wordt vaker waargenomen in combinatie met meerdere andere congenitale malformaties."},"pt":{"name":"Amelia do membro inferior isolada","synonyms":["Ausência congénita do membro inferior isolada"]},"pl":{"name":"Izolowany brak kończyny dolnej","synonyms":["Isolated congenital absence of lower limb"]},"cs":{"name":"Amelie dolní končetiny","synonyms":["Isolated congenital absence of lower limb"]},"uk":{"name":"Ізольована амелія нижньої кінцівки","synonyms":["Ізольована вроджена відсутність нижньої кінцівки"],"definition":"A rare, non-syndromic limb reduction defect characterized by complete or near-complete congenital absence of one (unilateral) or both (bilateral) of the lower extremities, occurring due to an intrauterine insult during the very early stages of embryonic development. It may be an isolated anomaly, but is more commonly observed in combination with multiple other congenital malformations."},"zh":{"name":"下肢残缺","definition":"一种罕见的非综合征性肢体复位缺陷，其特征胚胎发育早期宫内侵害导致先天性一条（单侧）或两条（双侧）下肢完全或接近完全缺如。它可能是一个孤立的异常，但更常见的是与其他多种先天性畸形合并。"},"tr":{"name":"Alt ekstremite amelisi"}},"xrefs":[{"source":"ICD-10","code":"Q72.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB9A.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"540310468"},{"source":"MONDO","code":"0017438","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925027","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":295057,"name":"OBSOLETE: Amelia of lower limb, unilateral","status":"inactive"},{"type":"Referred to","orpha":295059,"name":"OBSOLETE: Amelia of lower limb, bilateral","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294925,"name":"Non-syndromic amelia","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}