{"orpha":93268,"name":"Short rib-polydactyly syndrome, Beemer-Langer type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Short rib-polydactyly syndrome type 4"],"definition":"A rare ciliopathy with major skeletal involvement characterized by short ribs and hypoplastic thorax, small iliac bones, short tubular bones with smooth metaphyseal margins, and bowed radii and ulnae. The tibiae are relatively well tubulated and longer than the fibulae. There is a high frequency of brain defects, while post-axial polydactyly is rare. Additional features may include cleft lip, absence of internal genitalia, and renal, biliary, and pancreatic cysts, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93268/","orphanet_url":"https://www.orpha.net/en/disease/detail/93268","names":{"fr":{"name":"Syndrome des côtes courtes-polydactylie type Beemer-Langer","synonyms":["Syndrome des côtes courtes-polydactylie type 4"],"definition":"Ciliopathie rare avec atteinte osseuse majeure caractérisée par des côtes courtes et un thorax hypoplasique, des os iliaques de petite taille, des os tubulaires courts avec des bords métaphysaires lisses, et des cubitus et ulna arqués. Les tibias sont relativement tubulés et plus longs que la fibula. Les anomalies cérébrales sont fréquentes, tandis que la polydactylie post-axiale est rare. Les autres signes cliniques incluent notamment une fente labiale, l'absence d'organes génitaux internes et des kystes rénaux, biliaires et pancréatiques."},"de":{"name":"Kurzrippen-Polydaktylie-Syndrom Typ Beemer-Langer","synonyms":["Kurzrippen-Polydaktylie-Syndrom Typ 4"],"definition":"Eine seltene Ziliopathie mit starker Skelettbeteiligung, die durch kurze Rippen und einen hypoplastischen Thorax, kleine Beckenknochen, kurze Röhrenknochen mit glatten Metaphysenrändern und gebogene Radien und Ulnae gekennzeichnet ist. Die Tibiae sind relativ gut röhrenförmig und länger als die Fibulae. Die Häufigkeit von Hirndefekten ist hoch, während die postaxiale Polydaktylie selten ist. Weitere Merkmale können u. a. Lippenspalten, das Fehlen innerer Genitalien sowie Nieren-, Gallen- und Pankreaszysten sein."},"es":{"name":"Síndrome de costillas cortas-polidactilia tipo Beemer-Langer","synonyms":["Síndrome de polidactilia y costillas cortas tipo 4"],"definition":"Es una ciliopatía poco frecuente con afectación principalmente esquelética caracterizada por costillas cortas e hipoplasia del tórax, huesos ilíacos pequeños, huesos tubulares cortos con márgenes metafisarios lisos e incurvación radial y cubital. Las tibias están relativamente bien tubuladas y presentan una mayor longitud que el peroné. La frecuencia de defectos cerebrales es elevada, mientras que la polidactilia post-axial es poco frecuente. Otros posibles hallazgos adicionales son labio leporino, ausencia de genitales internos y presencia de quistes renales, biliares y pancreáticos, entre otros."},"it":{"name":"Sindrome costa corta-polidattilia, tipo Beemer-Langer","synonyms":["Sindrome costa corta-polidattilia, tipo 4"],"definition":"Si tratta di una ciliopatia rara, con marcato interessamento scheletrico, caratterizzata da costole corte, ipoplasia del torace e delle ossa iliache, ossa tubulari corte con margini delle metafisi lisci, e radio e ulna incurvati. Le tibie sono relativamente ben tubulate e più lunghe dei peroni. Sono comuni le anomalie cerebrali, mentre la polidattilia postassiale è rara. I pazienti possono presentare anche labioschisi, agenesia dei genitali interni, e cisti renali, biliari e pancreatiche."},"nl":{"name":"Korte rib - polydactylie-syndroom, Beemer-Langer-type","synonyms":["Korte rib - polydactylie-syndroom type 4"],"definition":"Een zeldzame ciliopathie met prominente betrokkenheid van skelet, gekarakteriseerd door korte ribben en hypoplastische thorax, kleine darmbeenderen, korte pijpbeenderen met gladde metafysaire randen, en kromstand van radii en ulnae. De tibiae zijn relatief buisvormig en langer dan de fibulae. Hersendefecten komen vaak voor, terwijl postaxiale polydactylie zeldzaam is. Mogelijke bijkomende kenmerken zijn onder meer gespleten lip, afwezigheid van inwendige geslachtsorganen, en cysten van nier, galwegen en pancreas."},"pt":{"name":"Síndrome costelas curtas-polidactilia, tipo Beemer-Langer","synonyms":["Síndrome costelas curtas-polidactilia tipo 4"]},"pl":{"name":"Zespół krótkie żebro-polidaktylia typu Beemera i Langera","synonyms":["Zespół krótkie żebro-polidaktylia typu 4"]},"cs":{"name":"Syndrom zahrnující krátká žebra a polydaktylii, Beemerův-Langerův typ","synonyms":["Syndrom zahrnující krátká žebra a polydaktylii, typ 4","Syndrom zahrnující krátká žebra a polydaktylii, Beemer-Langerův typ"]},"uk":{"name":"Синдром короткої реберної полідактилії, тип Бімера-Лангера","synonyms":["Синдром полідактилії з короткими ребрами, тип 4"],"definition":"A rare ciliopathy with major skeletal involvement characterized by short ribs and hypoplastic thorax, small iliac bones, short tubular bones with smooth metaphyseal margins, and bowed radii and ulnae. The tibiae are relatively well tubulated and longer than the fibulae. There is a high frequency of brain defects, while post-axial polydactyly is rare. Additional features may include cleft lip, absence of internal genitalia, and renal, biliary, and pancreatic cysts, among others."},"zh":{"name":"短肋-多指综合征，Beemer-Langer型","synonyms":["短肋-多指综合征4型"],"definition":"Beemer-Langer型短肋多指畸形综合征（SRPS）是短肋多指畸形综合征的一种极为罕见的类型，其特征是胸部短而窄，肋骨水平，其他骨骼特征包括小髂骨、短管状骨、长骨弯曲，很少出现轴前和轴后多指畸形。脑部异常常见，有些病例有唇裂，内生殖器缺失和肾，胆及胰腺囊肿。病程中患者很快进展为死亡。"},"tr":{"name":"Kısa kaburga-polidaktili sendromu, Beemer-Langer tipi","synonyms":["Kısa kaburga-polidaktili sendromu tip 4"]}},"xrefs":[{"source":"OMIM","code":"269860","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.B0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"896003600"},{"source":"MONDO","code":"0010024","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537599","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432198","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4832","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":1505,"name":"Short rib-polydactyly syndrome","classifications":[147,156,184,199]}],"children":[],"genes":[{"symbol":"IFT122","name":"intraflagellar transport 122","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"28370949[PMID]","hgnc":"13556","ensembl":"ENSG00000163913","omim":"606045","loci":["3q21.3-q22.1"]},{"symbol":"IFT80","name":"intraflagellar transport 80","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30767363[PMID]","hgnc":"29262","ensembl":"ENSG00000068885","omim":"611177","loci":["3q25.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":49.0,"area":"Worldwide","status":"Validated","source":"6829599[PMID]_6682288[PMID]_2070548[PMID]_1897578[PMID]_8209908[PMID]_8209908[PMID]_17058284[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"6829599[PMID]_6682288[PMID]_2070548[PMID]_1897578[PMID]_8209908[PMID]_8209908[PMID]_17058284[PMID]_ORPHANET"}],"phenotypes":null}