{"orpha":93269,"name":"Short rib-polydactyly syndrome, Majewski type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Short rib-polydactyly syndrome type 2"],"definition":"A rare ciliopathy with major skeletal involvement characterized by a hypoplastic thorax with short ribs and protuberant abdomen, micromelia with particularly short tibiae with ovoid configuration, pre- and postaxial polydactyly, brachydactyly, hypoplasia or aplasia of nails, and dysmorphic craniofacial features (such as prominent forehead, low-set and malformed ears, short and flat nose, lobulated tongue, micrognathia, and cleft lip/palate). Additional reported manifestations include urogenital, gastrointestinal, cardiovascular, and cerebral malformations, among others. The condition is fatal in the neonatal period.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93269/","orphanet_url":"https://www.orpha.net/en/disease/detail/93269","names":{"fr":{"name":"Syndrome des côtes courtes-polydactylie type Majewski","synonyms":["Syndrome des côtes courtes-polydactylie type 2"],"definition":"Ciliopathie rare avec atteinte osseuse majeure, caractérisée par un thorax hypoplasique et des côtes courtes, un abdomen protubérant, une micromélie avec des tibias particulièrement courts et ovoïdes, une polydactylie pré- et postaxiale, brachydactylie, hypoplasie ou aplasie des ongles et dysmorphie crânio-faciale (front proéminent, oreilles implantées bas et mal formées, nez court et plat, langue lobulée, micrognathie et fente labiale/palatine). Parmi les autres manifestations rapportées, on peut citer entre autres, les malformations urogénitales, gastro-intestinales, cardiovasculaires et cérébrales. La maladie est fatale pendant la période néonatale."},"de":{"name":"Kurzrippen-Polydaktylie-Syndrom Typ Majewski","synonyms":["Kurzrippen-Polydaktylie-Syndrom Typ 2"],"definition":"Seltene Ziliopathie mit ausgeprägter Skelettbeteiligung, gekennzeichnet durch hypoplastischen Thorax mit kurzen Rippen und vorgewölbtem Abdomen, Mikromelie mit besonders kurzen, eiförmigen Tibiae, prä- und postaxiale Polydaktylie, Brachydaktylie, Hypoplasie oder Aplasie der Nägel und dysmorphe kraniofaziale Merkmale (z. B. prominente Stirn, tiefsitzende und fehlgebildete Ohren, kurze und flache Nase, gelappte Zunge, Mikrognathie und Lippen-Kiefer-Gaumenspalte). Darüber hinaus werden urogenitale, gastrointestinale, kardiovaskuläre und zerebrale Fehlbildungen beschrieben. Die Erkrankung ist in der Neugeborenenperiode fatal."},"es":{"name":"Síndrome de polidactilia y costillas cortas tipo Majewski","synonyms":["Síndrome de polidactilia y costillas cortas tipo 2"],"definition":"Es una ciliopatía poco frecuente con grave afectación esquelética caracterizada por hipoplasia del tórax con costillas cortas y abdomen prominente, micromelia con tibias particularmente cortas de configuración ovoide, polidactilia pre- y postaxial, braquidactilia, hipoplasia o aplasia ungueal y rasgos craneofaciales dismórficos (como frente prominente, orejas malformadas y de baja implantación, nariz corta y aplanada, lengua lobulada, micrognatia y labio leporino/ paladar hendido). Otras manifestaciones adicionales descritas incluyen malformaciones urogenitales, gastrointestinales, cardiovasculares y cerebrales, entre otras. La patología es letal en el período neonatal."},"it":{"name":"Sindrome costa corta-polidattilia tipo Majewski","synonyms":["Sindrome costa corta-polidattilia, tipo 2"],"definition":"Si tratta di una ciliopatia rara con grave interessamento scheletrico, caratterizzata da ipoplasia del torace con costole corte e addome prominente, micromelia con tibie molto corte a forma ovoidale, polidattilia pre- e postassiale, brachidattilia, ipoplasia o aplasia delle unghie e dismorfismi craniofacciali (fronte prominente, orecchie malformate a basso impianto, naso corto e piatto, lingua lobulata, micrognazia e labio/palatoschisi). I pazienti possono presentare anche malformazioni urogenitali, gastrointestinali, cardiovascolari e cerebrali. La malattia è letale nel periodo neonatale."},"nl":{"name":"Korte rib - polydactylie-syndroom, Majewski-type","synonyms":["Korte rib - polydactylie-syndroom type 2"],"definition":"Een zeldzame ciliopathie met ernstige betrokkenheid van skelet, gekarakteriseerd door hypoplastische thorax met korte ribben en uitpuilend abdomen, micromelie met bijzonder korte tibiae met ovoïde configuratie, pre- en postaxiale polydactylie, brachydactylie, hypoplasie of aplasie van nagels, en dysmorfe craniofaciale kenmerken (zoals prominent voorhoofd, laagstaande en misvormde oren, korte en platte neus, gelobde tong, micrognathie, en gespleten lip/verhemelte). Bijkomende manifestaties die werden gerapporteerd, zijn onder meer urogenitale, gastro-intestinale, cardiovasculaire, en cerebrale malformaties. De aandoening is fataal in de neonatale periode."},"pt":{"name":"Síndrome costelas curtas-polidactilia, tipo Majewski","synonyms":["Síndrome costelas curtas-polidactilia tipo 2"]},"pl":{"name":"Zespół krótkie żebro-polidaktylia typu Majewskiego","synonyms":["Zespół krótkie żebro-polidaktylia typu 2"]},"cs":{"name":"Syndrom zahrnující krátká žebra a polydaktylii, Majewského typ","synonyms":["Syndrom zahrnující krátká žebra a polydaktylii, typ 2"]},"uk":{"name":"Синдром короткореберної полідактилії, тип Маєвського","synonyms":["Синдром полідактилії з короткими ребрами, тип 2"],"definition":"A rare ciliopathy with major skeletal involvement characterized by a hypoplastic thorax with short ribs and protuberant abdomen, micromelia with particularly short tibiae with ovoid configuration, pre- and postaxial polydactyly, brachydactyly, hypoplasia or aplasia of nails, and dysmorphic craniofacial features (such as prominent forehead, low-set and malformed ears, short and flat nose, lobulated tongue, micrognathia, and cleft lip/palate). Additional reported manifestations include urogenital, gastrointestinal, cardiovascular, and cerebral malformations, among others. The condition is fatal in the neonatal period."},"zh":{"name":"短肋-多指综合征，Majewski型","synonyms":["短肋-多指综合征2型"]},"tr":{"name":"Kısa kaburga-polidaktili sendromu, Majewski tipi","synonyms":["Kısa kaburga-polidaktili sendromu tip 2"]}},"xrefs":[{"source":"OMIM","code":"263520","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613091","qualifier":"BTNT","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":"132740256"},{"source":"MONDO","code":"0019662","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0024507","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4833","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":"DYNC2H1","name":"dynein cytoplasmic 2 heavy chain 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22791528[PMID]_21211617[PMID]_22499340[PMID]","hgnc":"2962","ensembl":"ENSG00000187240","omim":"603297","loci":["11q22.3"]},{"symbol":"IFT54","name":"intraflagellar transport 54","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29068549[PMID]","hgnc":"17861","ensembl":"ENSG00000204104","omim":"607380","loci":["2q37.3"]},{"symbol":"NEK1","name":"NIMA related kinase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22791528[PMID]_22499340[PMID]_21211617[PMID]","hgnc":"7744","ensembl":"ENSG00000137601","omim":"604588","loci":["4q33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":34.0,"area":"Worldwide","status":"Validated","source":"20607029[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20607029[PMID]"}],"phenotypes":null}