{"orpha":3317,"name":"Thoracolaryngopelvic dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Barnes syndrome"],"definition":"Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3317/","orphanet_url":"https://www.orpha.net/en/disease/detail/3317","names":{"fr":{"name":"Dysplasie thoraco-laryngo-pelvienne","synonyms":["Syndrome de Barnes"],"definition":"La dysplasie thoraco-laryngo-pelvienne est une dysplasie avec brièveté des côtes caractérisée par une dystrophie thoracique, une sténose laryngée et un petit bassin."},"de":{"name":"Dysostose, thorakopelvine","synonyms":["Barnes-Syndrom","Thorax-Larynx-Becken-Dysplasie"],"definition":"Die Thorax-Larynx-Becken-Dysplasie ist eine Kurzrippen-Dysplasie und gekennzeichnet durch Thoraxdystrophie, Kehlkopfstenose und kleines Becken."},"es":{"name":"Displasia toraco-laringo-pélvica","synonyms":["Disostosis toraco-pélvica"],"definition":"La displasia toraco-laringo-pélvica es una displasia de costillas cortas, caracterizada por distrofia torácica, estenosis laringea y pelvis pequeña."},"it":{"name":"Displasia toraco-laringo-pelvica","synonyms":["Sindrome di Barnes"]},"nl":{"name":"Thoracolaryngopelviene dysplasie","synonyms":["Syndroom van Barnes"],"definition":"Een korte rib-dysplasie, gekenmerkt door thoracale dystrofie, laryngeale stenose, en kleine pelvis."},"pt":{"name":"Displasia toraco-laringo-pélvica","synonyms":["Síndrome Barnes"]},"pl":{"name":"Dysplazja piersiowo-krtaniowo-miedniczna","synonyms":["Zespół Barnesa"]},"cs":{"name":"Torakolaryngopelvická dysplázie","synonyms":["Barnesův syndrom"]},"uk":{"name":"Тораколаринго-тазова дисплазія","synonyms":["Синдром Барнса"],"definition":"Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis."},"zh":{"name":"胸喉盆腔发育不良","synonyms":["Barnes综合征"]},"tr":{"name":"Torakolaringopelvik displazi","synonyms":["Barnes sendromu"]}},"xrefs":[{"source":"OMIM","code":"187760","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"187770","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.BY","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"337990406"},{"source":"MONDO","code":"0008551","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536517","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1861197","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93426,"name":"Ciliopathies with major skeletal involvement","classifications":[147,156,199]},{"orpha":183622,"name":"Genetic respiratory malformation","classifications":[156]},{"orpha":182111,"name":"Respiratory malformation","classifications":[184]},{"orpha":182108,"name":"Thoracic malformation","classifications":[184]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"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":null}