{"orpha":294981,"name":"Isolated absence of both lower leg and foot","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated congenital tibiofibular terminal transverse meromelia"],"definition":"Congenital absence of both lower leg and foot is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral or bilateral absence of both the tibia and the fibula, as well as the distal elements composing the foot.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-294981/","orphanet_url":"https://www.orpha.net/en/disease/detail/294981","names":{"fr":{"name":"Absence isolée de la jambe et du pied","synonyms":["Méromélie terminale transverse tibio-fibulaire isolée","Méromélie terminale transverse tibio-péronière isolée"],"definition":"Anomalie réductionnelle transverse des membres non syndromique rare, caractérisée par l'absence unilatérale ou bilatérale du tibia et du péroné, ainsi que d'éléments distaux composant le pied."},"de":{"name":"Isoliertes angeborenes Fehlen von Unterschenkel und Fuß","synonyms":["Isolierte kongenitale tibio-fibulare terminaltransverse Meromelie"],"definition":"Das angeborene Fehlen von Unterschenkel und Fuß ist ein seltener, nicht-syndromaler, terminaler Querschnittsdefekt der Gliedmaßen, der durch ein- oder beidseitiges Fehlen von Schien- und Wadenbein sowie der distalen Elemente des Fußes gekennzeichnet ist."},"es":{"name":"Ausencia aislada de la parte inferior de la pierna y del pie","synonyms":["Meromelia terminal transversa congénita aislada de tibia-peroné"],"definition":"La ausencia congénita de la parte inferior de la pierna y el pie es un defecto de reducción de la extremidad transversal terminal, no sindrómico y poco frecuente, caracterizado por la ausencia uni- o bilateral de la tibia y el peroné, así como de elementos distales que componen el pie."},"it":{"name":"Agenesia isolata della porzione inferiore della gamba e del piede","synonyms":["Meromelia congenita isolata tibiofibulare trasversale terminale"],"definition":"L'agenesia congenita della porzione inferiore della gamba e del piede è un difetto raro non sindromico da riduzione trasversale della porzione terminale degli arti, caratterizzato dall'agenesia mono- o bilaterale delle tibie, dei peroni e degli elementi distali del piede."},"nl":{"name":"Geïsoleerde afwezigheid van onderbeen en voet","synonyms":["Geïsoleerde congenitale tibiofibulaire terminale transversale meromelie"],"definition":"Congenitale afwezigheid van zowel onderbeen als voet is een zeldzaam, niet-syndromaal, terminaal transversaal ledemaatreductiedefect dat gekarakteriseerd wordt door unilaterale of bilaterale afwezigheid van zowel het scheenbeen als het kuitbeen, alsook van de distale elementen die de voet vormen."},"pt":{"name":"Ausência isolada da região inferior da perna e pé","synonyms":["Meromelia terminal transversa tibio-peronial isolada congénita"]},"pl":{"name":"Izolowany brak dolnej części kończyny dolnej i stopy","synonyms":["Isolated congenital tibiofibular terminal transverse meromelia"],"definition":"*Wrodzony brak podudzi i stóp jest rzadką, izolowaną, poprzeczną wadą ubytkową kończyny w odcinku końcowym, która charakteryzuje się jednostronnym lub obustronnym brakiem zarówno kości piszczelowej, jak i strzałkowej oraz dystalnych elementów tworzących stopę."},"cs":{"name":"Vrozené chybění bérce a nohy","synonyms":["Tibiofibulární terminální transverzální meromelie"]},"uk":{"name":"Ізольована відсутність гомілки та стопи","synonyms":["Ізольована вроджена тибіофібулярна термінальна поперечна меромелія"],"definition":"Congenital absence of both lower leg and foot is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral or bilateral absence of both the tibia and the fibula, as well as the distal elements composing the foot."},"zh":{"name":"先天性小腿和足部缺失","synonyms":["胫腓末端横贯残肢畸形"],"definition":"先天性下肢和足部缺失是一种罕见的、非综合征性末端横截骨复位缺陷，其特征是单侧或双侧胫骨和腓骨及足部远端缺如。"},"tr":{"name":"Doğumsal alt bacak ve ayak yokluğu","synonyms":["Tibiofibular terminal transvers meromeli"]}},"xrefs":[{"source":"ICD-10","code":"Q72.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB9A.7","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"835905199"},{"source":"MONDO","code":"0017444","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925025","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":295097,"name":"OBSOLETE: Congenital absence of both lower leg and foot, unilateral","status":"inactive"},{"type":"Referred to","orpha":295099,"name":"OBSOLETE: Congenital absence of both lower leg and foot, bilateral","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":498491,"name":"Non-syndromic complete hemimelia","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}