{"orpha":1508,"name":"Coxoauricular syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1508/","orphanet_url":"https://www.orpha.net/en/disease/detail/1508","names":{"fr":{"name":"Syndrome coxo-auriculaire","definition":"Anomalie osseuse primaire rare, décrite à ce jour uniquement chez une mère et ses trois filles, caractérisée par une petite taille, une luxation de la hanche, des modifications vertébrales et pelviennes mineures, et une microtie avec perte d'audition. Aucun cas n'a été décrit dans la littérature depuis 1981."},"de":{"name":"Coxo-aurikuläres Syndrom"},"es":{"name":"Síndrome coxo-auricular","definition":"Es un defecto óseo primario muy poco frecuente, únicamente descrito hasta la fecha en una madre y sus tres hijas, caracterizado por talla baja, luxación de cadera, alteraciones vertebrales y pélvicas poco importantes y microtia con pérdida auditiva. No se han descrito nuevos casos en la literatura desde 1981."},"it":{"name":"Sindrome coxoauricolare","definition":"La sindrome coxoauricolare è un difetto osseo primario molto raro, fino ad oggi descritto solo in una madre e nelle sue tre figlie; è caratterizzata da bassa statura, lussazione dell'anca, lievi alterazioni vertebrali e pelviche e microtia associata a ipoacusia. Gli ultimi casi descritti risalgono al 1981."},"nl":{"name":"Coxo-auriculair syndroom","definition":"Coxo-auriculair syndroom is een uiterst zeldzaam primair botdefect, tot op heden enkel beschreven in een moeder en haar drie dochters, dat gekarakteriseerd wordt door een kleine gestalte, dislocatie van de heup, kleine veranderingen aan de wervelkolom en het bekken, en microtie met gehoorverlies. Sinds 1981 zijn er geen verdere beschrijvingen te vinden in de literatuur."},"pt":{"name":"Síndrome coxo-auricular"},"pl":{"name":"Zespół biodrowo-uszny"},"cs":{"name":"Koxoaurikulární syndrom"},"uk":{"name":"Коксоаурикулярний синдром","definition":"A rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981."},"zh":{"name":"髋耳综合征"},"tr":{"name":"Koksoauriküler sendromu"}},"xrefs":[{"source":"OMIM","code":"122780","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.E","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"649449912"},{"source":"MONDO","code":"0007392","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565148","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1852513","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1558","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":["Unknown"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"7282772[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7282772[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002823","label":"Abnormality of femur morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002644","label":"Abnormality of pelvic girdle bone morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000413","label":"Atresia of the external auditory canal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null}]}}