{"orpha":1505,"name":"Short rib-polydactyly syndrome","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1505/","orphanet_url":"https://www.orpha.net/en/disease/detail/1505","names":{"fr":{"name":"Syndrome des côtes courtes-polydactylie","definition":"Les syndromes des côtes courtes-polydactylie constituent un groupe de malformations osseuses caractérisées par une étroitesse thoracique et une polydactylie (en général pré-axiale)."},"de":{"name":"Kurzrippen-Polydaktylie-Syndrom","definition":"Eine Gruppe von Skelettfehlbildungen mit engem Thorax und (meist präaxialer) Polydaktylie."},"es":{"name":"Síndrome de costillas cortas-polidactilia","definition":"Es un grupo de malformaciones óseas, caracterizadas por estrechez torácica y polidactilia (normalmente preaxial)."},"it":{"name":"Sindrome costa corta-polidattilia"},"nl":{"name":"Korte rib - polydactylie-syndroom","definition":"Een groep van botmalformaties, gekarakteriseerd door smalle thorax en polydactylie (meestal preaxiaal)."},"pt":{"name":"Síndrome de costela curta-polidactilia"},"pl":{"name":"Zespół krótkie żebro - polidaktylia"},"cs":{"name":"Syndrom zahrnující krátká žebra a polydaktylii"},"uk":{"name":"Синдром короткого ребра-полідактилії","definition":"A group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial)."},"zh":{"name":"短肋多指(趾)畸形综合征"},"tr":{"name":"Kısa kaburga-polidaktili sendrom"}},"xrefs":[{"source":"ICD-11","code":"LD24.B0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"960900212"},{"source":"MONDO","code":"0015461","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"15461","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D012779","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0036996","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":182108,"name":"Thoracic malformation","classifications":[184]}],"children":[{"orpha":1515,"name":"Cranioectodermal dysplasia","type":"Malformation syndrome"},{"orpha":289,"name":"Ellis-Van Creveld syndrome","type":"Malformation syndrome"},{"orpha":474,"name":"Jeune syndrome","type":"Malformation syndrome"},{"orpha":397715,"name":"Joubert syndrome with Jeune asphyxiating thoracic dystrophy","type":"Clinical subtype"},{"orpha":498497,"name":"Short rib-polydactyly syndrome type 5","type":"Malformation syndrome"},{"orpha":93268,"name":"Short rib-polydactyly syndrome, Beemer-Langer type","type":"Malformation syndrome"},{"orpha":93269,"name":"Short rib-polydactyly syndrome, Majewski type","type":"Malformation syndrome"},{"orpha":93270,"name":"Short rib-polydactyly syndrome, Saldino-Noonan type","type":"Malformation syndrome"},{"orpha":93271,"name":"Short rib-polydactyly syndrome, Verma-Naumoff type","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}