{"orpha":457378,"name":"Complex lethal osteochondrodysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type"],"definition":"A rare, genetic, primary bone dysplasia with decreased bone density characterized by fetal lethality, severe hypomineralization of the entire skeleton, barrel shaped thorax with short ribs, multiple intrauterine fractures of ribs and long bones, ascites, pleural effusion, and ventriculomegaly. Variable congenital developmental anomalies affecting the brain, lungs, and kidneys have also been associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-457378/","orphanet_url":"https://www.orpha.net/en/disease/detail/457378","names":{"fr":{"name":"Ostéochondrodysplasie complexe létale","synonyms":["Ostéochondrodysplasie complexe létale, type Symoens-Barnes-Gistelinck"],"definition":"Dysplasie osseuse primaire rare, d'origine génétique, avec hypodensité osseuse, caractérisée par une mort foetale, une hypominéralisation sévère de l'ensemble du squelette, un thorax en entonnoir des côtes courtes, de multiples fractures intra-utérines des côtes et des os longs, une ascite, un épanchement pleural et une ventriculomégalie. Des anomalies congénitales inconstantes du développement affectant le cerveau, les poumons et les reins ont également été associées."},"de":{"name":"Osteochondrodysplasie, komplexe letale","synonyms":["Komplexe letale Osteochondrodysplasie Typ Symoens-Barnes-Gistelinck"],"definition":"Eine seltene, genetisch bedingte, primäre Knochendysplasie mit verminderter Knochendichte, die durch fetale Letalität, schwere Hypomineralisierung des gesamten Skeletts, tonnenförmigen Thorax mit kurzen Rippen, multiple intrauterine Rippen- und Röhrenknochenfrakturen, Aszites, Pleuraerguss und Ventrikulomegalie gekennzeichnet ist. Variable kongenitale Entwicklungsanomalien, die das Gehirn, die Lunge und die Nieren betreffen, wurden ebenfalls berichtet."},"es":{"name":"Osteocondrodisplasia letal compleja","synonyms":["Osteocondrodisplasia letal compleja tipo Symoens-Barnes-Gistelinck"],"definition":"Es una displasia ósea primaria, genética y poco frecuente con disminución de la densidad ósea. Está caracterizada por fallecimiento fetal, grave hipomineralización generalizada, tórax en tonel con costillas cortas, múltiples fracturas intrauterinas de costillas y huesos largos, ascitis, derrame pleural y ventriculomegalia. La enfermedad también asocia diversas anomalías congénitas del desarrollo que afectan al cerebro, los pulmones y los riñones."},"it":{"name":"Osteocondrodisplasia letale complessa","definition":"È una displasia scheletrica primitiva rara, di origine genetica, associata ad una diminuzione della densità ossea, che esita nella morte del feto; è caratterizzata da una grave ipomineralizzazione sistemica dello scheletro, torace ''a barile'' con costole corte, fratture prenatali multiple delle costole e delle ossa lunghe, ascite, versamento pleurico e ventricolomegalia. Si associa ad anomalie congenite dello sviluppo che interessano il cervello, i polmoni e i reni."},"nl":{"name":"Complexe letale osteochondrodysplasie","synonyms":["Complexe letale osteochondrodysplasie, Symoens-Barnes-Gistelinck type"],"definition":"Een zeldzame, genetische, primaire botdysplasie met verminderde botdensiteit, gekarakteriseerd door foetale letaliteit, ernstige hypomineralisatie van het hele skelet, tonvormige thorax met korte ribben, meervoudige intra-uteriene fracturen van ribben en pijpbeenderen, buikwaterzucht, pleuravocht, en ventriculomegalie. Variabele congenitale ontwikkelingsanomalieën die de hersenen, longen en nieren treffen, werden ook reeds geassocieerd."},"pt":{"name":"Osteocondrodisplasia complexa fatal"},"pl":{"name":"Złożona śmiertelna osteochondrodysplazja","synonyms":["Złożona śmiertelna osteochondrodysplazja typu Symoensa, Barnesa i Gistelincka"]},"cs":{"name":"Komplexní letální osteochondrodysplázie","synonyms":["Komplex letální osteochondrodysplázie, Symoensové-Barnesův-Gistelinckové typ","Komplex letální osteochondrodysplázie, Symoens-Barnes-Gistelinckové typ"]},"uk":{"name":"Складна летальна остеохондродисплазія","synonyms":["Комплексна летальна остеохондродисплазія типу Симоенса-Барнса-Гістелінка"],"definition":"A rare, genetic, primary bone dysplasia with decreased bone density characterized by fetal lethality, severe hypomineralization of the entire skeleton, barrel shaped thorax with short ribs, multiple intrauterine fractures of ribs and long bones, ascites, pleural effusion, and ventriculomegaly. Variable congenital developmental anomalies affecting the brain, lungs, and kidneys have also been associated."},"zh":{"name":"复杂致死性骨软骨发育不良","synonyms":["复杂致死性骨软骨发育不良，Symoens-Barnes-Gistelinck型"],"definition":"一种罕见遗传性、原发性骨发育不良，骨密度降低，其特点是胎儿致死，整个骨骼严重矿质过少，桶形胸廓，肋骨短，多发性肋骨和长骨宫内骨折，腹水、胸腔积液和脑室扩大。影响大脑、肺和肾脏的各种先天性发育异常也与此有关。"},"tr":{"name":"Kompleks letal osteokondrodisplazi","synonyms":["Kompleks letal osteokondrodisplazi, Symoens-Barnes-Gistelinck tipi"]}},"xrefs":[{"source":"OMIM","code":"616897","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.KY","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014821","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225162","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":363250,"name":"Ciliopathy","classifications":[156]},{"orpha":93446,"name":"Primary bone dysplasia with decreased bone density","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"TAPT1","name":"transmembrane anterior posterior transformation 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26365339[PMID]","hgnc":"26887","ensembl":"ENSG00000169762","omim":"612758","loci":["4p15.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"26365339[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26365339[PMID]"}],"phenotypes":null}