{"orpha":397927,"name":"Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome is a rare, genetic, neural tube defect malformation syndrome characterized by sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, single umbilical artery and, in some, increased nuchal translucency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-397927/","orphanet_url":"https://www.orpha.net/en/disease/detail/397927","names":{"fr":{"name":"Syndrome d'agénésie sacrée-ossification anormale des corps vertébraux-persistance de la notochorde","definition":"Syndrome d'anomalie rare du tube neural, d'origine génétique, caractérisé par une agénésie sacrée et une ossification anormale des corps vertébraux avec des arcs vertébraux normaux, associées à une persistance de la notochorde à l'échographie. Les autres manifestations comprennent un pied bot bilatéral, un oligohydramnios, une artère ombilicale unique et, dans certains cas, une augmentation de la clarté nucale."},"de":{"name":"Sakrale Agenesie-abnormale Verknöcherung der Wirbelkörper-persistierender notochordaler Kanal-Syndrom"},"es":{"name":"Síndrome de agenesia sacra-osificación anómala de los cuerpos vertebrales-canal notocordal persistente","definition":"El síndrome de agenesia sacra - osificación anómala de los cuerpos vertebrales - canal notocordal persistente, es un síndrome de malformación por defecto del tubo neural, genético y poco frecuente, caracterizado por agenesia sacra y osificación anómala del cuerpo vertebral con arcos vertebrales normales, asociados con persistencia, en la ecografía, del canal notocordal. Los hallazgos adicionales incluyen pie zambo bilateral, oligohidramnios, arteria umbilical única y, en algunos casos, aumento de la translucencia nucal."},"it":{"name":"Sindrome da agenesia sacrale, anomalie dell'ossificazione dei corpi vertebrali, persistenza del canale notocordale","definition":"La sindrome che associa l'agenesia sacrale, le anomalie dell'ossificazione dei corpi vertebrali e la persistenza del canale della notocorda è un difetto genetico raro del tubo neurale, caratterizzato da agenesia sacrale ed anomalie dell'ossificazione dei corpi vertebrali con archi vertebrali normali e dalla persistenza del canale notocordale evidenziata dall'ecografia. Altri segni clinici sono i piedi torti, l'oligoidramnios, l'arteria ombelicale unica e, in alcuni pazienti, l'aumento della translucenza nucale."},"nl":{"name":"Sacrale agenesie - abnormale ossificatie van wervellichamen - persisterende chorda dorsalis-syndroom","definition":"Sacrale agenesie - abnormale ossificatie van de wervellichamen - persisterende chorda dorsalis-syndroom is een zeldzaam, genetisch malformatiesyndroom met een neuralebuisdefect, en wordt gekarakteriseerd door sacrale agenesie en abnormale ossificatie van wervellichamen met normale wervelbogen, geassocieerd met persisterende chorda dorsalis op echografie. Bijkomende bevindingen zijn onder meer bilaterale klompvoet, oligohydramnion, enkelvoudige arteria umbilicalis (navelslagader) en, in sommigen, een verdikte nekplooi."},"pt":{"name":"Síndrome de agenésia do sacro-ossificação anómala dos corpos vertebrais-persistência do notocórdio"},"pl":{"name":"Zespół agnezja kości krzyżowej-nieprawidłowe kostnienie trzonów kręgów-przetrwały kanał struny grzbietowej","definition":"*Zespół agenezja kości krzyżowej-nieprawidłowe kostnienie trzonów kręgów-przetrwały kanał struny grzbietowej jest rzadkim, genetycznie uwarunkowanym zespołem wady cewy nerwowej, który charakteryzuje się agenezją kości krzyżowej i nieprawidłowym kostnieniem trzonów kręgów, z prawidłowymi łukami kręgowymi oraz zachowanym kanałem struny grzbietowej w badaniu ultrasonograficznym. Dodatkowe objawy obejmują obustronne stopy końsko-szpotawe, małowodzie, pojedynczą tętnicę pępkową oraz, w niektórych przypadkach, zwiększoną przezierność karku."},"cs":{"name":"Syndrom zahrnující sakrální agenezi, abnormální osifikaci obratlových těl a perzistentní notochordální kanál"},"uk":{"name":"Синдром сакральної агенезії-аномального окостеніння тіл хребців-персистуючого нотохордального каналу","definition":"Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome is a rare, genetic, neural tube defect malformation syndrome characterized by sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, single umbilical artery and, in some, increased nuchal translucency."},"zh":{"name":"骶骨发育不全-椎体成骨异常-持续性脊索管综合征","definition":"骶骨发育不全-椎体异常骨化-持续性脊索管综合征是一种罕见的遗传性神经管畸形综合征，其特征是骶骨发育不全、椎体异常骨和椎弓正常而超声下可见脊索管持续存在。本病的其他表现包括双侧马蹄内翻足、羊水过少、单脐动脉，在某些情况下胎儿的颈项半透明增加。"},"tr":{"name":"Sakral agenezi-vertebral cisimlerin anormal ossifikasyonu-kalıcı notokordal kanal sendromu"}},"xrefs":[{"source":"OMIM","code":"615709","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014314","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751569","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":268843,"name":"Malformation of the neurenteric canal, spinal cord and column","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"TBXT","name":"T-box transcription factor T","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24253444[PMID]","hgnc":"11515","ensembl":"ENSG00000164458","omim":"601397","loci":["6q27"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"24369075[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24369075[PMID]"}],"phenotypes":null}