{"orpha":93270,"name":"Short rib-polydactyly syndrome, Saldino-Noonan type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Short rib-polydactyly syndrome type 1"],"definition":"A rare ciliopathy with major skeletal involvement characterized by short ribs with an extremely narrow thorax, very short limbs, absent or very small fibulae, severe metaphyseal dysplasia of tubular bones, post-axial polydactyly, and defective ossification in the calvaria, vertebrae, pelvis, and bones of the hands and feet. Congenital anomalies of multiple other organs have also been described, such as polycystic kidneys, transposition of the great vessels, and atretic lesions of the gastrointestinal and genitourinary tract. Hydrops fetalis may be observed at an early gestational age.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93270/","orphanet_url":"https://www.orpha.net/en/disease/detail/93270","names":{"fr":{"name":"Syndrome des côtes courtes-polydactylie type Saldino-Noonan","synonyms":["Syndrome des côtes courtes-polydactylie type 1"],"definition":"Ciliopathie rare avec atteinte osseuse majeure caractérisée par des côtes courtes et un thorax extrêmement étroit, des membres très courts, des péronés absents ou très petits, une dysplasie sévère des métaphyses des os tubulaires, une polydactylie postaxiale et des défauts d'ossification de la calvaria, des vertèbres, du pelvis et des os des mains et des pieds. Des anomalies congénitales de nombreux autres organes ont également été décrites, telles que des reins polykystiques, une transposition des gros vaisseaux et des lésions atrétiques du tube gastro-intestinal et des voies génito-urinaires. Une anasarque foetoplacentaire peut être observée à un âge gestationnel précoce."},"de":{"name":"Kurzrippen-Polydaktylie-Syndrom Typ Saldino-Noonan","synonyms":["Kurzrippen-Polydaktylie-Syndrom Typ 1"],"definition":"Eine seltene Ziliopathie mit schwerer Skelettbeteiligung, gekennzeichnet durch kurze Rippen mit extrem schmalem Brustkorb, sehr kurze Gliedmaßen, fehlende oder sehr kleine Fibulae, schwere metaphysäre Dysplasie der langen Röhrenknochen, postaxiale Polydaktylie und unzureichende Verknöcherung der Schädelknochen, Wirbel, des Beckens sowie der Hand- und Fußknochen. Angeborene Fehlbildungen zahlreicher anderer Organe wurden ebenfalls beschrieben, z. B. polyzystische Nieren, Transposition der großen Gefäße und atretische Läsionen des Gastrointestinal- und Urogenitaltraktes. Der Hydrops fetalis kann bereits in einem frühen Gestationsalter beobachtet werden."},"es":{"name":"Síndrome de costillas cortas-polidactilia tipo Saldino-Noonan","synonyms":["Síndrome de polidactilia y costillas cortas tipo 1"],"definition":"Es una ciliopatía poco frecuente con una importante afectación esquelética caracterizada por costillas cortas con un tórax extremadamente angosto, grave acortamiento de las extremidades, peroné ausente o muy pequeño, grave displasia metafisaria de los huesos tubulares, polidactilia postaxial y osificación defectuosa de la bóveda craneal, las vértebras, la pelvis, y los huesos de las manos y de los pies. También se ha descrito múltiples anomalías congénitas que afectan a otros órganos, como riñones poliquísticos, transposición de los grandes vasos y lesiones atrésicas del tracto digestivo y genitourinario. Es posible observar hidropesía fetal a una edad gestacional temprana."},"it":{"name":"Sindrome costa corta-polidattilia, tipo Saldino-Noonan","synonyms":["Sindrome costa corta-polidattilia, tipo 1"],"definition":"Si tratta di una ciliopatia rara con un marcato interessamento scheletrico, caratterizzata da costole corte e torace molto stretto, arti molto corti, agenesia o grave ipoplasia dei peroni, grave displasia metafisaria delle ossa tubulari, polidattilia post-assiale e anomalie dell'ossificazione della volta cranica, delle vertebre, del bacino e delle ossa delle mani e dei piedi. I pazienti possono presentare anche anomalie congenite di altri organi, che comprendono i reni policistici, la trasposizione dei grandi vasi e le lesioni atresiche del tratto gastrointestinale e genitourinario. L'idrope fetale può manifestarsi già nelle prime fasi della gravidanza."},"nl":{"name":"Korte rib - polydactylie-syndroom, Saldino-Noonan-type","synonyms":["Korte rib - polydactylie-syndroom type 1"],"definition":"Een zeldzame ciliopathie met sterke betrokkenheid van skelet, gekarakteriseerd door korte ribben en extreem smalle thorax, zeer korte ledematen, afwezige of zeer kleine fibulae, ernstige metafysaire dysplasie van pijpbeenderen, postaxiale polydactylie, en gebrekkige ossificatie in schedeldak, wervels, bekken, en botten van handen en voeten. Congenitale anomalieën van meerdere andere organen werden ook reeds beschreven, zoals polycystische nieren, transpositie van grote bloedvaten, en atretische laesies van gastro-intestinaal en urogenitaal stelsel. Mogelijk wordt hydrops foetalis waargenomen op vroege gestatieleeftijd."},"pt":{"name":"Síndrome costelas curtas-polidactilia, tipo Saldino-Noonan","synonyms":["Síndrome costelas curtas-polidactilia tipo 1"]},"pl":{"name":"Zespół krótkie żebro-polidaktylia typu Saldino i Noonan","synonyms":["Zespół krótkie żebro-polidaktylia typu 1"]},"cs":{"name":"Syndrom zahrnující krátká žebra a polydaktylii, Saldinův-Noonanův typ","synonyms":["Syndrom zahrnující krátká žebra a polydaktylii, typ 1","Syndrom zahrnující krátká žebra a polydaktylii, Saldino-Noonanův typ"]},"uk":{"name":"Синдром короткореберної полідактилії, тип Сальдіно-Нунан","synonyms":["Синдром полідактилії з короткими ребрами, тип 1"],"definition":"A rare ciliopathy with major skeletal involvement characterized by short ribs with an extremely narrow thorax, very short limbs, absent or very small fibulae, severe metaphyseal dysplasia of tubular bones, post-axial polydactyly, and defective ossification in the calvaria, vertebrae, pelvis, and bones of the hands and feet. Congenital anomalies of multiple other organs have also been described, such as polycystic kidneys, transposition of the great vessels, and atretic lesions of the gastrointestinal and genitourinary tract. Hydrops fetalis may be observed at an early gestational age."},"zh":{"name":"短肋-多指综合征，Saldino-Noonan型","synonyms":["短肋-多指综合征1型"],"definition":"Saldino-Noonan 型短肋多指综合征（SRPS）是短肋多指畸形综合征的一种极为罕见的类型，在新生儿期起病，其特点是多指(趾)畸形、水肿外观、小胸伴短横肋，可引起致命的心肺窘迫。受累的患者还表现出严重的四肢短小，干骺端尖锐，以及一系列其他的骨化缺陷（椎骨、颅骨、骨盆、手足骨）。骨外表现包括多囊肾、大血管转位、胃肠道和泌尿生殖系统的闭锁。"},"tr":{"name":"Kısa kaburga-polidaktili sendromu, Saldino-Noonan tipi","synonyms":["Kısa kaburga-polidaktili sendromu tip 1"]}},"xrefs":[{"source":"OMIM","code":"613091","qualifier":"NTBT","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":"197703396"},{"source":"UMLS","code":"C0036069","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4834","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]},{"orpha":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]}],"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":"27925158[PMID]","hgnc":"2962","ensembl":"ENSG00000187240","omim":"603297","loci":["11q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":32.0,"area":"Worldwide","status":"Validated","source":"23456818[PMID]_27925158[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"23456818[PMID]_27925158[PMID]_ORPHANET"}],"phenotypes":null}