{"orpha":1757,"name":"Fibular dimelia-diplopodia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Leg duplication-mirror foot syndrome"],"definition":"A very rare, genetic, congenital limb malformation syndrome characterized by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be associated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1757/","orphanet_url":"https://www.orpha.net/en/disease/detail/1757","names":{"fr":{"name":"Syndrome de dimélie fibulaire-diplopodie","synonyms":["Duplication de la jambe et du pied en miroir"],"definition":"Syndrome génétique très rare de malformation congénitale des membres, caractérisé par une duplication du péroné associée à une polydactylie préaxiale en miroir du pied, qui peut se présenter sous la forme d'une malformation isolée ou en association avec d'autres anomalies, notamment une dimélie cubitale, des anomalies faciales et un tératome sacro-coccygien."},"de":{"name":"Fibuläre Dimelie-Diplopodie-Syndrom","synonyms":["Beinverdoppelung - Fußverdoppelung","Spiegelbildliche Polydaktylie - Duplikation des Fußes"],"definition":"Ein sehr seltenes, genetisch bedingtes, kongenitales Fehlbildungssyndrom der Gliedmaßen, das durch eine Duplikation der Fibula in Verbindung mit einer präaxialen Spiegelpolydaktylie des Fußes gekennzeichnet ist. Sie kann isoliert auftreten, oder zusammen mit einer ulnaren Dimelie, fazialen Anomalien und Steißbeinteratom."},"es":{"name":"Síndrome de dimelia-diplopia fibular","definition":"Es un síndrome malformativo congénito, que afecta a las extremidades, de origen genético y poco frecuente. Se caracteriza por duplicación del peroné asociada a polidactilia preaxial en espejo del pie. Puede ocurrir como una malformación aislada, o estar asociada a otras anomalías, como dimelia cubital, anomalías faciales y teratoma sacrococcígeo."},"it":{"name":"Sindrome da dimelia peroneale-diplopodia","synonyms":["Duplicazione a specchio della gamba e del piede"],"definition":"Si tratta di una malformazione congenita molto rara degli arti, di origine genetica, caratterizzata dalla duplicazione del perone, associata a polidattilia preassiale ''a specchio'' del piede. La malformazione può essere isolata oppure associarsi ad altre anomalie, come la dimelia ulnare, i dismorfismi facciali e il teratoma sacrococcigeo."},"nl":{"name":"Fibulaire dimelie - diplopodie-syndroom","synonyms":["Beenduplicatie - spiegelvoet-syndroom"],"definition":"Een zeer zeldzaam, genetisch, congenitaal malformatiesyndroom van de ledematen, gekarakteriseerd door duplicatie van het kuitbeen geassocieerd met preaxiale spiegelbeeld polydactylie van de voet, die kan voorkomen als een geïsoleerde malformatie of geassocieerd kan zijn met andere anomalieën, waaronder dimelie van de ulna, gelaatsanomalieën en sacrococcygeaal teratoom."},"pt":{"name":"Síndrome de dimelia peroniana-diplopodia","synonyms":["Duplicação da perna-pé em espelho"]},"pl":{"name":"Wrodzone zdwojenie kości strzałkowej - diplopodia","synonyms":["Zdwojenie nogi - lustrzane odbicie stopy"]},"cs":{"name":"Syndrom zahrnující fibulární dimelii a diplopodii","synonyms":["Syndrom zahrnující duplikaci nohy a zrcadlové chodidlo"]},"uk":{"name":"Синдром фіброзної димелії-диплоподії","synonyms":["Синдром подвоєння ніг - дзеркальна стопа"],"definition":"A very rare, genetic, congenital limb malformation syndrome characterized by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be assoicated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma."},"zh":{"name":"腓骨重复畸形-重复足综合征","synonyms":["腓骨重复畸形-重复足综合征"]},"tr":{"name":"Fibular dimelia-diplopodia sendromu","synonyms":["Bacak duplikasyonu-ayna ayak sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q74.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015773","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303758","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294959,"name":"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0009556","label":"Absent tibia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030736","label":"Sacrococcygeal teratoma","frequency":"Frequent (79-30%)","criteria":null}]}}