{"orpha":114,"name":"Auriculoosteodysplasia","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare primary bone dysplasia with multiple joint dislocations characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and short stature. Dysplasia of the radiocapitellar joint has been reported in all patients. There have been no further descriptions in the literature since 1967.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-114/","orphanet_url":"https://www.orpha.net/en/disease/detail/114","names":{"fr":{"name":"Auriculo-ostéodysplasie","definition":"Dysplasie osseuse primaire rare avec luxations articulaires multiples caractérisée par de multiples dysplasies osseuses, des oreilles d'une forme caractéristique (allongement du lobe qui est attaché et accompagné d'un petit lobule en position légèrement postérieure) et une petite taille. Une dysplasie de l'articulation huméro-radiale a été rapportée chez tous les patients. Aucun cas n'a été décrit dans la littérature depuis 1967."},"de":{"name":"Aurikulo-Osteo-Dysplasie","definition":"Eine seltene primäre Knochendysplasie mit multiplen Gelenkdislokationen, die sich durch multiple knöcherne Dysplasien, eine charakteristische Ohrform (verlängerte, angewachsene Ohrläppchen, begleitet von einem kleinen, leicht posterioren Läppchen) und Kleinwuchs auszeichnet. Konstantes Symptom bei allen Betroffenen war ein dysplastisches Radius-Capitulum-Gelenk. Seit 1967 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Aurículo-osteo-displasia","definition":"Es una displasia ósea primaria poco frecuente con múltiples luxaciones articulares caracterizada por displasia ósea múltiple, forma característica de la oreja (alargamiento del lóbulo, al que está adherido, y acompañado de otro lóbulo más pequeño y ligeramente posterior) y talla baja. En todos los pacientes se ha descrito displasia de la articulación radiocapitelar. No ha habido más descripciones en la literatura desde 1967."},"it":{"name":"Displasia osteoauricolare"},"nl":{"name":"Auriculo-osteodysplasie","definition":"Een zeldzame primaire botdysplasie met meervoudige gewrichtsluxaties, gekenmerkt door multipele osseuze dysplasie, kenmerkende oorvorm (elongatie van de oorlel die is vastgehecht en vergezeld van een kleine, ietwat posterieur gelegen lel), en kleine gestalte. Dysplasie van radiocapitellair gewricht werd bij alle patiënten gerapporteerd. Sinds 1967 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Auriculo-osteodisplasia","definition":"Displasia óssea primária rara com múltiplas luxações articulares caracterizada por displasia óssea múltipla, formato característico da orelha (alongamento do lóbulo que é inserido e acompanhado por um lóbulo pequeno e ligeiramente posterior) e baixa estatura. Identificou-se displasia da articulação radiocapitelar em todos os doentes. Não existem descrições adicionais na literatura desde 1967."},"pl":{"name":"Dysplazja uszno-kostna","definition":"Rzadka pierwotna dysplazja kości z licznymi zwichnięciami stawów, która charakteryzuje się dysplazją licznych kości, charakterystycznym kształtem ucha (wydłużenie płatka, który jest przyrośnięty, towarzyszy mu mały tylny płatek) i niskim wzrostem. U wszystkich pacjentów opisano dysplazję stawu promieniowo-głowowego. Od 1967 r. nie ma dalszych opisów w literaturze."},"cs":{"name":"Aurikuloosteodysplázie"},"uk":{"name":"Аурикулоостеодисплазія","definition":"A very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature."},"zh":{"name":"耳骨发育不全"},"tr":{"name":"Aurikuloosteodisplazi"}},"xrefs":[{"source":"OMIM","code":"109000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.E","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1153492135"},{"source":"MONDO","code":"0007177","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538271","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1862381","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8663","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93441,"name":"Primary bone dysplasia with multiple joint dislocations","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"6065451[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6065451[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000889","label":"Abnormality of the clavicle","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009906","label":"Aplasia/Hypoplasia of the earlobes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009907","label":"Attached earlobe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003019","label":"Abnormality of the wrist","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Occasional (29-5%)","criteria":null}]}}