{"orpha":464366,"name":"NEK9-related lethal skeletal dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome"],"definition":"NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-464366/","orphanet_url":"https://www.orpha.net/en/disease/detail/464366","names":{"fr":{"name":"Dysplasie squelettique létale associée à NEK9","synonyms":["Dysplasie squelettique létale avec akinésie foetale, contractures, dysplasie thoracique et hypoplasie pulmonaire"],"definition":"Dysplasie osseuse primaire, rare et létale, caractérisée par une akinésie foetale, des contractures multiples, un raccourcissement de tous les os longs, des côtes courtes et larges, une poitrine et un thorax étroits, une hypoplasie pulmonaire et un abdomen proéminent. Une association avec des fémurs courts et arqués a également été décrite."},"de":{"name":"NEK9-assoziierte letale Skelettdysplasie","synonyms":["Letale Skelettdysplasie-fetale Akinesie-Kontrakturen-Thoraxdysplasie-Pulmonalhypoplasie-Syndrom"],"definition":"Die NEK9-assoziierte letale Skelettdysplasie ist eine seltene, tödliche, primäre Knochendysplasie, die durch fetale Akinesie, multiple Kontrakturen, Verkürzung aller langen Knochen, kurze, breite Rippen, schmalen Brustkorb und Thorax, pulmonale Hypoplasie und ein vorstehendes Abdomen gekennzeichnet ist. Kurze gebogene Oberschenkelknochen können ebenfalls assoziiert sein."},"es":{"name":"Displasia esquelética letal asociada a NEK9","synonyms":["Síndrome letal de displasia esquelética-aquinesia fetal-contracturas-displasia torácica-hipoplasia pulmonar"],"definition":"Es una displasia ósea primaria, letal y poco frecuente, caracterizada por acinesia fetal, contracturas múltiples, acortamiento de todos los huesos largos, costillas cortas y anchas, tórax estrecho, hipoplasia pulmonar y abdomen protuberante. También se pueden asociar fémures de arco corto."},"it":{"name":"Displasia scheletrica letale correlata a NEK9","definition":"La displasia scheletrica letale correlata a NEK9 è una displasia scheletrica primitiva rara letale, caratterizzata da acinesia fetale, contratture multiple, accorciamento di tutte le ossa lunghe, costole corte e larghe, torace stretto, ipoplasia polmonare e addome prominente. Possono associarsi femori corti e incurvati."},"nl":{"name":"NEK9-gerelateerde letale skeletdysplasie","synonyms":["Letale skeletdysplasie - foetale akinesie - contracturen - thoracale dysplasie - pulmonaire hypoplasie-syndroom"],"definition":"NEK9-gerelateerde letale skeletdysplasie is een zeldzame, letale, primaire botdysplasie die gekarakteriseerd wordt door foetale akinesie, meervoudige contracturen, verkorting van alle pijpbeenderen, korte en brede ribben, smalle borst en borstkas, pulmonale hypoplasie en een vooruitstekend abdomen. Korte, gebogen dijbeenderen kunnen ook geassocieerd zijn."},"pt":{"name":"Displasia esquelética letal NEK9-relacionada"},"pl":{"name":"Letalna dysplazja szkieletowa zależna od NEK9","synonyms":["Zespół letalnej dysplazji szkieletowej, akinezji płodu, przykurczy, dysplazji klatki piersiowej i hipoplazji płuc"]},"cs":{"name":"NEK9-vázaná letální skeletální dysplázie","synonyms":["Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome","Syndrom zahrnující letální skeletální dysplázii, fetální akinezi, kontrakce, hrudní dysplázii a plicní hypoplázii"]},"uk":{"name":"Летальна скелетна дисплазія, повязана з NEK9","synonyms":["Летальний синдром скелетної дисплазії - акінезії плода - контрактур - дисплазії грудної клітки - легеневої гіпоплазії"],"definition":"NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated."},"zh":{"name":"NEK9相关致死性骨发育不良","synonyms":["致命性骨骼发育不良-胎儿运动障碍-挛缩-胸廓发育不良-肺发育不全综合征"],"definition":"NEK9基因相关的致死性骨骼发育不良是一种罕见的、致死性的原发性骨发育不良，其特征是胎儿运动不能、多发性挛缩、所有长骨缩短、肋骨短而宽、胸廓狭窄、肺发育不全和腹部突出。还可能伴有短弓形股骨。"},"tr":{"name":"NEK9-ilişkili letal iskelet displazisi","synonyms":["Letal iskelet displazisi-fetal akinezi-kontraktürler-torasik displazi-pulmoner hipoplazi sendromu"]}},"xrefs":[{"source":"OMIM","code":"617022","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q68.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.4Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014870","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568141","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93426,"name":"Ciliopathies with major skeletal involvement","classifications":[147,156,199]},{"orpha":363250,"name":"Ciliopathy","classifications":[156]},{"orpha":182108,"name":"Thoracic malformation","classifications":[184]}],"children":[],"genes":[{"symbol":"NEK9","name":"NIMA related kinase 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26908619[PMID]","hgnc":"18591","ensembl":"ENSG00000119638","omim":"609798","loci":["14q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"26908619[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26908619[PMID]"}],"phenotypes":null}