{"orpha":3266,"name":"Isolated humero-radio-ulnar synostosis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated congenital humero-radioulnar fusion"],"definition":"Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3266/","orphanet_url":"https://www.orpha.net/en/disease/detail/3266","names":{"fr":{"name":"Synostose huméro-radio-cubitale isolée","synonyms":["Fusion huméro-radio-cubitale","Fusion huméro-radio-ulnaire","Synostose huméro-radio-ulnaire congénitale isolée"],"definition":"Anomalie congénitale rare de la formation des articulations d'origine génétique, caractérisée par une fusion uni- ou bilatérale de l'humérus, du radius et de l'ulna, entraînant une perte de mobilité du coude et, dans la plupart des cas, une incapacité fonctionnelle du bras. Elle peut se manifester par une bifurcation de l'humérus distal avec absence d'articulation du coude et raccourcissement de la longueur du bras visible à l'imagerie. Des anomalies de la main, à type d'oligoectrosyndactylie peuvent être associées."},"de":{"name":"Synostose, humero-radio-ulnare isolierte","synonyms":["Isolierte angeborene humeroradioulnare Fusion"]},"es":{"name":"Sinostosis húmero-radio-cubital aislada","synonyms":["Fusión húmero-radio-cubital congénita aislada"],"definition":"La sinostosis húmero-radio-cubital es un trastorno congénito genético muy poco frecuente, debido a un defecto de la formación articular. Está caracterizado por la fusión uni- o bilateral del húmero, radio y huesos cubitales, lo que conduce a la pérdida de movimiento del codo y, en la mayoría de los casos a incapacidad funcional del brazo. En la imagen radiológica puede aparecer como una bifurcación humeral distal con ausencia de la articulación del codo y longitud del brazo acortada. También puede tener asociadas anomalías en las manos, en concreto oligo- / ectro-/ sindactilia."},"it":{"name":"Sinostosi omero-radio-ulnare isolata","synonyms":["Fusione omero-radio-ulnare isolata congenita"],"definition":"La sinostosi omero-radio-ulnare è un difetto genetico congenito molto raro della formazione delle articolazioni, caratterizzato dalla fusione mono- o bilaterale delle ossa dell'omero, del radio e dell'ulna, con conseguente perdita della mobilità del gomito e, in molti pazienti, con difetto funzionale del braccio. Le immagini diagnostiche possono evidenziare una biforcazione distale dell'omero con agenesia dell'articolazione del gomito ed un accorciamento delle braccia. Può associarsi ad anomalie delle mani, in particolare all'oligoectrosindattilia."},"nl":{"name":"Geïsoleerde humeroradio-ulnaire synostose","synonyms":["Geïsoleerde congenitale humeroradio-ulnaire fusie"],"definition":"Humero-radio-ulnaire synostose is een uiterst zeldzame, genetische, congenitale stoornis van de gewrichtsvorming die wordt gekarakteriseerd door uni- of bilaterale fusie van het opperarmbeen, het spaakbeen en de ellepijp, wat leidt tot een verlies van de beweeglijkheid van de elleboog en, in de meeste gevallen, gebrekkige armfunctie. Bij beeldvorming kan het zichtbaar zijn als bifurcatie van de distale humerus met afwezigheid van het ellebooggewricht en een kortere armlengte. Handanomalieën, met name oligo-ectrosyndactylie, kunnen geassocieerd zijn."},"pt":{"name":"Sinostose úmero-radio-cubital isolada","synonyms":["Fusão úmero-rádio-cubital isolada congénita"]},"pl":{"name":"Izolowana synostoza ramienno-promieniowo-łokciowa","synonyms":["Zrost ramienno-promieniowo-łokciowy"],"definition":"*Synostoza ramienno-promieniowo-łokciowa jest niezwykle rzadkim, genetycznie uwarunkowanym, wrodzonym zaburzeniem rozwojowym stawów, które charakteryzuje się jedno- lub obustronnym zespoleniem kości ramiennej, promieniowej i łokciowej, prowadzącym do utraty ruchomości łokcia i w większości przypadków do funkcjonalnej niewydolności ramienia. W badaniach obrazowych widoczne jest rozdwojenie kości ramiennej w odcinku dystalnym, brak stawu łokciowego i skróceniem ramienia. Towarzyszyć mogą wady dłoni, w tym brak palców, rozszczep dłoni i palcozrosty."},"cs":{"name":"Humeroradioulnární synostóza","synonyms":["Humeroradioulnární fúze"]},"uk":{"name":"Ізольований гумерорадіоульнарний синостоз","synonyms":["Ізольоване вроджене гумеро-радіоульнарне зрощення"],"definition":"Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated."},"zh":{"name":"肱桡尺骨融合","synonyms":["肱骨-桡骨-尺骨融合"]},"tr":{"name":"Humero-radyo-ulnar sinostoz","synonyms":["Humero-radyo-ulnar füzyon"]}},"xrefs":[{"source":"ICD-10","code":"Q74.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB90.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1798339866"},{"source":"MONDO","code":"0017983","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925002","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2749","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":295205,"name":"OBSOLETE: Humero-radio-ulnar synostosis, unilateral","status":"inactive"},{"type":"Referred to","orpha":295207,"name":"OBSOLETE: Humero-radio-ulnar synostosis, bilateral","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294949,"name":"Non-syndromic joint formation defects","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"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:0005916","label":"Abnormal metacarpal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001172","label":"Abnormal thumb morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010935","label":"Abnormality of the upper urinary tract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000069","label":"Abnormality of the ureter","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009601","label":"Aplasia/Hypoplasia of the thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001048","label":"Cavernous hemangioma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003070","label":"Elbow ankylosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002974","label":"Radioulnar synostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100560","label":"Upper limb asymmetry","frequency":"Very frequent (99-80%)","criteria":null}]}}