{"orpha":294977,"name":"Isolated absence of thigh and lower leg with foot present","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated congenital femoro-tibio-fibular intercalary transverse meromelia"],"definition":"Congenital absence of thigh and lower leg with foot present is a rare, non-syndromic, intercalary limb reduction defect characterized by unilateral or bilateral absence of femoral and tibio-fibular components, with the presence of intact foot elements.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-294977/","orphanet_url":"https://www.orpha.net/en/disease/detail/294977","names":{"fr":{"name":"Absence isolée de la cuisse et de la jambe avec pied conservé","synonyms":["Méromélie intercalaire transverse fémoro-tibio-fibulaire isolée","Méromélie intercalaire transverse fémoro-tibio-péronier isolée"],"definition":"Anomalie réductionnelle intercalaire rare et non syndromique des membres, caractérisée par l'absence unilatérale ou bilatérale des composants fémoraux et tibio-fibulaires, les éléments du pieds étant présents et intacts."},"de":{"name":"Isoliertes Fehlen von Ober- und Unterschenkel bei vorhandenem Fuß","synonyms":["Isolierte kongenitale femoro-tibio-fibulare interkalartransverse Meromelie"]},"es":{"name":"Ausencia aislada del muslo y la parte baja de la pierna con presencia del pie","synonyms":["Meromelia intercalar transversa congénita aislada de fémur-tibia-peroné"],"definition":"Es un defecto de reducción intercalar de la extremidad, no sindrómico y poco frecuente, caracterizado por la ausencia uni- o bilateral de componentes femorales y tibio-fibulares, con la presencia de elementos del pie intactos."},"it":{"name":"Aplasia isolata della coscia e della porzione inferiore della gamba in presenza del piede","synonyms":["Meromelia congenita isolata femoro-tibio-fibulare trasversale intercalare"],"definition":"L'aplasia congenita della coscia e della porzione inferiore della gamba, in presenza del piede è un difetto raro e non sindromico da riduzione della porzione intercalare degli arti, caratterizzato da aplasia mono- o bilaterale delle componenti femorali e tibio-peroneali, in presenza degli elementi del piede, che sono intatti."},"nl":{"name":"Geïsoleerde afwezigheid van dij en onderbeen met voet aanwezig","synonyms":["Geïsoleerde congenitale femorotibiofibulaire intercalaire transversale meromelie"],"definition":"Congenitale afwezigheid van dij en onderbeen met voet aanwezig is een zeldzaam, niet-syndromaal, intercalair ledemaatreductiedefect dat gekarakteriseerd wordt door unilaterale of bilaterale afwezigheid van femorale en tibiofibulaire componenten met aanwezigheid van intacte elementen van de voet."},"pt":{"name":"Ausência isolada da coxa e região inferior da perna com pé presente","synonyms":["Meromelia intercalar transversa fémuro-tibio-peronial isolada congénita"]},"pl":{"name":"Izolowany brak uda i podudzia przy obecności stopy","synonyms":["Isolated congenital femoro-tibio-fibular intercalary transverse meromelia"],"definition":"*Wrodzony brak uda i podudzia z zachowaniem stopy jest rzadką, izolowaną wadą ubytkową kończyny dolnej, która charakteryzuje się jednostronnym lub obustronnym brakiem struktur kości udowej oraz piszczelowej i strzałkowej, z zachowaniem nienaruszonych elementów stóp."},"cs":{"name":"Vrozené chybění stehna a bérce s přítomností nohy","synonyms":["Femorotibiofibulární interkalární transverzální meromelie","Kompletní fokomelie dolní končetiny"]},"uk":{"name":"Ізольована відсутність стегна та гомілки при наявності стопи","synonyms":["Ізольована вроджена стегново-тібіо-фібулярна інтеркалярна поперечна меромелія"],"definition":"Congenital absence of thigh and lower leg with foot present is a rare, non-syndromic, intercalary limb reduction defect characterized by unilateral or bilateral absence of femoral and tibio-fibular components, with the presence of intact foot elements."},"zh":{"name":"先天性大腿和小腿缺失并有足部存在","synonyms":["股胫腓骨骨干横贯残肢畸形"],"definition":"大腿与小腿先天性缺失伴足存在是一种罕见的、非综合征性肢体复位缺陷，以单侧或双侧股骨和胫腓骨缺失为特征的、有完整足部结构。"},"tr":{"name":"Doğumsal ayak mevcutken uyluk ve alt bacak yokluğu","synonyms":["Femorotibiofibular interkalar transvers meromeli"]}},"xrefs":[{"source":"ICD-10","code":"Q72.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB9A.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1165997650"},{"source":"MONDO","code":"0017442","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925019","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":295089,"name":"OBSOLETE: Congenital absence of thigh and lower leg with foot present, unilateral","status":"inactive"},{"type":"Referred to","orpha":295091,"name":"OBSOLETE: Congenital absence of thigh and lower leg with foot present, bilateral","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294927,"name":"Non-syndromic intercalary limb defects","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}