{"orpha":1121,"name":"Radial deficiency-tibial hypoplasia syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"Radial deficiency-tibial hypoplasia syndrome is a rare, genetic dysostosis syndrome with combined reduction defects of upper and lower limbs characterized by bilateral radial aplasia, absent thumbs and bilateral tibial hypo/aplasia. Additional bone anomalies (including partial toe hypo/aplasia, short fibula and clubhand) may be associated. There have been no further descriptions in the literature since 1996.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1121/","orphanet_url":"https://www.orpha.net/en/disease/detail/1121","names":{"fr":{"name":"Syndrome d'aplasie radiale-aplasie tibiale","definition":"Syndrome rare de dysostose génétique avec anomalies réductionnelles combinées des membres supérieurs et inférieurs caractérisé par une aplasie radiale bilatérale, une absence des pouces et une hypo/aplasie tibiale bilatérale. D'autres anomalies osseuses (dont hypoplasie/aplasie partielle des orteils, un péroné court et une main bote) peuvent être associées. Aucun cas n'a été décrit dans la littérature depuis 1996."},"de":{"name":"Radiusaplasie-Tibiahypoplasie-Syndrom"},"es":{"name":"Síndrome de aplasia radial-aplasia tibial","definition":"Es un síndrome de disostosis genética poco frecuente por reducción combinada de las extremidades superiores e inferiores caracterizado por aplasia radial bilateral, pulgares ausentes e hipo / aplasia tibial bilateral. Este síndrome puede asociar anomalías óseas adicionales (incluyendo hipo / aplasia parcial de los dedos de los pies, peroné corto y mano zamba). No ha habido más casos descritos en la literatura desde 1996."},"it":{"name":"Iposviluppo radiale - ipoplasia tibiale","definition":"La sindrome da iposviluppo radiale e ipoplasia tibiale è una disostosi genetica rara con difetti in riduzione degli arti superiori e inferiori. È caratterizzata da aplasia radiale bilaterale, agenesia dei pollici e ipoplasia/aplasia tibiale bilaterale. Possono associarsi altre anomalie scheletriche (ipoplasia/aplasia parziale delle dita dei piedi, accorciamento del perone e mano torta). Non sono stati descritti nuovi casi dopo il 1996."},"nl":{"name":"Radiale deficiëntie - tibiale hypoplasie-syndroom","definition":"Radiale deficiëntie - tibiale hypoplasie-syndroom is een zeldzaam, genetisch dysostosesyndroom met gecombineerde reductiedefecten van bovenste en onderste ledematen en wordt gekarakteriseerd door bilaterale aplasie van de spaakbeenderen, afwezige duimen en bilaterale hypo-/aplasie van de scheenbeenderen. Bijkomende botanomalieën (waaronder partiële hypo-/aplasie van tenen, kort kuitbeen en klomphand) kunnen geassocieerd zijn. Sinds 1996 verschenen er geen bijkomende beschrijvingen meer in de literatuur."},"pt":{"name":"Síndrome de anomalia radial-hipoplasia tibial"},"pl":{"name":"Skrócenie kości promieniowej - niedorozwój kości strzałkowej"},"cs":{"name":"Syndrom zahrnující deficit radia a tibiální hypoplázii"},"uk":{"name":"Синдром променевої недостатності-гіпоплазії великогомілкової кістки","definition":"Radial deficiency-tibial hypoplasia syndrome is a rare, genetic dysostosis syndrome with combined reduction defects of upper and lower limbs characterized by bilateral radial aplasia, absent thumbs and bilateral tibial hypo/aplasia. Additional bone anomalies (including partial toe hypo/aplasia, short fibula and clubhand) may be associated. There have been no further descriptions in the literature since 1996."},"zh":{"name":"桡骨缺陷-胫骨发育不全综合征"},"tr":{"name":"Radyal yetersizlik-tibial hipoplazi sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q73.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015232","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190823","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294957,"name":"Dysostosis with combined reduction defects of upper and lower limbs","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8723109[PMID]"}],"phenotypes":null}