{"orpha":498497,"name":"Short rib-polydactyly syndrome type 5","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare ciliopathy with major skeletal involvement characterized by short ribs, micromelia, limb bowing, polysyndactyly, absent ossification of the radii, tibiae and fibulae, as well as the bony elements of the hands and feet, and hypoplastic scapulae. Additional hallmarks of ciliopathic disease, such as laterality defects and cystic kidneys, have also been observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-498497/","orphanet_url":"https://www.orpha.net/en/disease/detail/498497","names":{"fr":{"name":"Syndrome des côtes courtes-polydactylie type 5","definition":"Ciliopathie rare avec atteinte osseuse majeure caractérisée par des côtes courtes, une micromélie, des membres recourbés, une polysyndactylie, une absence d'ossification des radius, des tibias et des fibules, ainsi que d'éléments osseux des mains et des pieds, et des scapulae hypoplasiques. D'autres caractéristiques d'une ciliopathie, telles que des défauts de latéralité et des reins kystiques, ont également été observées."},"de":{"name":"Kurzrippen-Polydaktylie-Syndrom Typ 5","definition":"Eine seltene Ziliopathie mit starker Skelettbeteiligung, die durch kurze Rippen, Mikromelie, Verkrümmung der Gliedmaßen, Polysyndaktylie, fehlende Verknöcherung der Radien, Tibiae und Fibulae sowie der knöchernen Elemente der Hände und Füße und hypoplastische Scapulae gekennzeichnet ist. Weitere Merkmale der Ziliopathie, wie z. B. Lateralitätsfehler und Zystennieren, wurden ebenfalls beobachtet."},"es":{"name":"Síndrome de polidactilia-costillas cortas tipo 5","definition":"Es una ciliopatía poco frecuente con afectación esquelética importante caracterizada por costillas cortas, micromelia, incurvación de las extremidades, polisindactilia, ausencia de osificación de los radios, tibias y peronés, así como de los elementos óseos de las manos y los pies, e hipoplasia escapular. También se han descrito otras características de la enfermedad ciliopática, como defectos de lateralidad y riñones quísticos."},"it":{"name":"Sindrome costa corta-polidattilia tipo 5"},"nl":{"name":"Korte rib - polydactylie-syndroom type 5","definition":"Een zeldzame ciliopathie met grote betrokkenheid van skelet, gekenmerkt door korte ribben, micromelie, kromstand van ledematen, polysyndactylie, afwezige ossificatie van radii, tibiae en fibulae, alsook van de benige elementen van handen en voeten, en hypoplastische scapulae. Bijkomende kenmerken van ciliopathie, zoals defecten van lateralisatie en cystenier, werden ook reeds waargenomen."},"pt":{"name":"Síndrome da costela curta-polidactilia tipo 5","definition":"Ciliopatia rara com grande envolvimento esquelético caracterizada por costelas curtas, micromelia, encurvamento dos membros, polissindactilia, ausência de ossificação dos rádios, tíbias e fíbulas, bem como dos elementos ósseos das mãos e pés, e omoplatas hipoplásicas. Características adicionais de doença ciliopática, como defeitos de lateralidade e rins quísticos, também têm sido observadas."},"pl":{"name":"Zespół krótkie żebra-polidaktylia typ 5"},"cs":{"name":"Syndrom krátkých žeber s polydaktylií, typ 5"},"uk":{"name":"Синдром полідактилії з короткими ребрами, тип 5","definition":"A rare ciliopathy with major skeletal involvement characterized by short ribs, micromelia, limb bowing, polysyndactyly, absent ossification of the radii, tibiae and fibulae, as well as the bony elements of the hands and feet, and hypoplastic scapulae. Additional hallmarks of ciliopathic disease, such as laterality defects and cystic kidneys, have also been observed."},"zh":{"name":"短肋-多指综合征5型"},"tr":{"name":"Kısa kaburga-polidaktili sendromu tip 5"}},"xrefs":[{"source":"OMIM","code":"614091","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":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0013569","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681240","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":"WDR35","name":"WD repeat domain 35","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"17935248[PMID]_21473986[PMID]","hgnc":"29250","ensembl":"ENSG00000118965","omim":"613602","loci":["2p24.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"17935248[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17935248[PMID]"}],"phenotypes":null}