{"orpha":474,"name":"Jeune syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Asphyxiating thoracic dystrophy of the newborn","JATD","Jeune asphyxiating thoracic dystrophy"],"definition":"Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including 'trident' aspect of the acetabula and metaphyseal changes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-474/","orphanet_url":"https://www.orpha.net/en/disease/detail/474","names":{"fr":{"name":"Syndrome de Jeune","synonyms":["Dystrophie thoracique asphyxiante de Jeune","Dystrophie thoracique asphyxiante du nouveau-né","JATD"],"definition":"Le syndrome de Jeune, ou dysplasie thoracique asphyxiante est une dysplasie à côtes courtes caractérisée par un thorax étroit, des membres courts et des anomalies squelettiques radiologiques avec aspect en \" trident \" du cotyle et anomalies métaphysaires."},"de":{"name":"Jeune-Syndrom","synonyms":["Asphyxiierende Thoraxdystrophie des Neugeborenen","JATD"],"definition":"Das Jeune-Syndrom, auch asphyxiierende Thoraxdystrophie genannt, ist eine Kurzrippen-Dysplasie und gekennzeichnet durch engen Thorax, kurze Gliedmassen und radiologische Skelettanomalien, darunter den ''Dreizahn''-Aspekt der Acetabula und metaphysäre Veränderungen."},"es":{"name":"Síndrome de Jeune","synonyms":["Distrofia torácica asfixiante de Jeune","Distrofia torácica asfixiante del recién nacido","JATD"],"definition":"El síndrome de Jeune, también llamado distrofia torácica asfixiante, es una displasia con costillas cortas caracterizada por tórax estrecho, extremidades cortas y anomalías esqueléticas radiológicas que incluyen acetábulo en forma de tridente y cambios metafisarios."},"it":{"name":"Sindrome di Jeune","synonyms":["Distrofia toracica asfissiante del neonato","Distrofia toracica asfissiante di Jeune","JATD"],"definition":"La sindrome di Jeune, nota anche come distrofia toracica asfissiante, è una displasia a costa-corta, caratterizzata da torace stretto, arti corti e anomalie scheletriche, che comprendono, tra l'altro, un aspetto a \"tridente\" dell'acetabolo e alterazioni metafisarie."},"nl":{"name":"Syndroom van Jeune","synonyms":["Asfyxiërende thoracale dystrofie van Jeune","Asfyxiërende thoracale dystrofie van de nieuwgeborene","JATD"],"definition":"Jeunesyndroom, ook asfyxiërende thoracale dystrofie genoemd, is een korte-ribdysplasie gekenmerkt door een smalle thorax, korte ledematen en radiologische afwijkingen van het skelet, waaronder een 'drietand' aspect van de heupgewrichtsholte en metafysaire veranderingen."},"pt":{"name":"Síndrome Jeune","synonyms":["Distrofia torácica asfixiante do recém-nascido"],"definition":"A síndrome de Jeune, também chamada distrofia torácica asfixiante, é uma displasia com costelas curtas caracterizada por um tórax estreito, membros curtos e alterações radiológicas esqueléticas, incluindo aspeto em \"tridente\" dos acetábulos e alterações metafisárias."},"pl":{"name":"Zespół Jeune'a","synonyms":["Dysplazja zaciskająca klatki piersiowej Jeune'a","Dysplazja zaciskająca klatki piersiowej noworodków","JATD"]},"cs":{"name":"Jeuneův syndrom","synonyms":["Asfyktická torakální dystrofie","JATD","Jeuneho asfyktické dystrofie hrudníku"]},"uk":{"name":"Синдром Жена","synonyms":["Асфіктична торакальна дистрофія новонароджених","JATD","Асфіктична торакальна дистрофія Жене"],"definition":"Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including 'trident' aspect of the acetabula and metaphyseal changes."},"zh":{"name":"热纳综合征","synonyms":["新生儿窒息性胸腔营养不良"]},"tr":{"name":"Jeune sendromu","synonyms":["JATD","Jeune asfikse edici torasik distrofi","Yenidoğanın asfikse edici torasik distrofisi"]}},"xrefs":[{"source":"OMIM","code":"208500","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611263","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613091","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613819","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614376","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615630","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615633","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616300","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617088","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619479","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD24.B1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"554018956"},{"source":"MONDO","code":"0018770","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537571","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265275","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3049","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10057621","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":183592,"name":"Genetic renal tubular disease","classifications":[156]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":93603,"name":"Rare renal tubular disease","classifications":[188]},{"orpha":156162,"name":"Renal ciliopathy","classifications":[156]},{"orpha":156165,"name":"Retinal ciliopathy","classifications":[156]},{"orpha":1505,"name":"Short rib-polydactyly syndrome","classifications":[147,156,184,199]}],"children":[],"genes":[{"symbol":"CEP120","name":"centrosomal protein 120","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25361962[PMID]","hgnc":"26690","ensembl":"ENSG00000168944","omim":"613446","loci":["5q23.2"]},{"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":"23456818[PMID]_23339108[PMID]","hgnc":"2962","ensembl":"ENSG00000187240","omim":"603297","loci":["11q22.3"]},{"symbol":"DYNC2I1","name":"dynein 2 intermediate chain 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23910462[PMID]","hgnc":"21862","ensembl":"ENSG00000126870","omim":"615462","loci":["7q36.3"]},{"symbol":"DYNC2I2","name":"dynein 2 intermediate chain 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24183451[PMID]","hgnc":"28296","ensembl":"ENSG00000119333","omim":"613363","loci":["9q34.11"]},{"symbol":"DYNC2LI1","name":"dynein cytoplasmic 2 light intermediate chain 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26077881[PMID]","hgnc":"24595","ensembl":"ENSG00000138036","omim":"617083","loci":["2p21"]},{"symbol":"IFT140","name":"intraflagellar transport 140","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22503633[PMID]_23418020[PMID]_24009529[PMID]","hgnc":"29077","ensembl":"ENSG00000187535","omim":"614620","loci":["16p13.3"]},{"symbol":"IFT172","name":"intraflagellar transport 172","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24140113[PMID]","hgnc":"30391","ensembl":"ENSG00000138002","omim":"607386","loci":["2p23.3"]},{"symbol":"IFT80","name":"intraflagellar transport 80","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17468754[PMID]","hgnc":"29262","ensembl":"ENSG00000068885","omim":"611177","loci":["3q25.33"]},{"symbol":"KIAA0753","name":"KIAA0753","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29138412[PMID]","hgnc":"29110","ensembl":"ENSG00000198920","omim":"617112","loci":["17p13.1"]},{"symbol":"TTC21B","name":"tetratricopeptide repeat domain 21B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21258341[PMID]_22791528[PMID]","hgnc":"25660","ensembl":"ENSG00000123607","omim":"612014","loci":["2q24.3"]},{"symbol":"WDR19","name":"WD repeat domain 19","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22019273[PMID]_22791528[PMID]","hgnc":"18340","ensembl":"ENSG00000157796","omim":"608151","loci":["4p14"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.4,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.89,"area":"Australia","status":"Not yet validated","source":"931421[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002644","label":"Abnormality of pelvic girdle bone morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010306","label":"Short thorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000766","label":"Abnormal sternum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000889","label":"Abnormality of the clavicle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010579","label":"Cone-shaped epiphysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001392","label":"Abnormality of the liver","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006703","label":"Aplasia/Hypoplasia of the lungs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000090","label":"Nephronophthisis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001830","label":"Postaxial foot polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Occasional (29-5%)","criteria":null}]}}