{"orpha":2311,"name":"Autosomal recessive spondylocostal dysostosis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Jarcho-Levin syndrome"],"definition":"A rare genetic axial skeletal dysostosis characterized by multiple segmentation defects of the vertebrae in combination with abnormalities of the ribs (malalignment, intercostal fusion and possible reduction in rib number), leading to short trunk in proportion to height, short neck and non-progressive scoliosis that is typically mild.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2311/","orphanet_url":"https://www.orpha.net/en/disease/detail/2311","names":{"fr":{"name":"Dysostose spondylo-costale autosomique récessive","synonyms":["Syndrome de Jarcho-Levin"],"definition":"Dysostose squelettique axiale génétique rare caractérisée par de multiples défauts de segmentation des vertèbres associés aux anomalies des côtes (mauvais alignement, fusion intercostale et éventuellement nombre réduit de côtes), ayant pour conséquence un tronc court par rapport à la taille, un cou court et une scoliose non progressive généralement de forme légère."},"de":{"name":"Dysostose, spondylokostale, autosomal-rezessive","synonyms":["Jarcho-Levin-Syndrom"],"definition":"Eine genetisch bedingte axiale Skelettdysostose, die durch multiple Segmentierungsdefekte der Wirbel in Kombination mit Anomalien der Rippen (Fehlstellung, interkostale Fusion und mögliche Verringerung der Rippenzahl) gekennzeichnet ist und zu einem im Verhältnis zur Körpergröße kurzen Rumpf, einem kurzen Hals und einer nicht fortschreitenden, in der Regel leichten Skoliose führt."},"es":{"name":"Disostosis espondilocostal autosómica recesiva","synonyms":["Síndrome de Jarcho-Levin"],"definition":"Es una disostosis esquelética axial de origen genético y poco frecuente caracterizada por múltiples defectos de segmentación vertebral asociados a anomalías de las costillas (desalineación, fusión intercostal y posible reducción en el número de costillas), que resultan en acortamiento desproporcionado del tronco, cuello corto y escoliosis no progresiva generalmente leve."},"it":{"name":"Disostosi spondilocostale autosomica recessiva","synonyms":["Sindrome di Jarcho-Levin"]},"nl":{"name":"Autosomaal recessieve spondylocostale dysostose","synonyms":["Syndroom van Jarcho-Levin"],"definition":"Een zeldzame genetische dysostose van axiaal skelet, gekenmerkt door meervoudige defecten van de segmentatie van wervels, in combinatie met afwijkingen van de ribben (foutieve alignering, intercostale fusie en mogelijke vermindering van het aantal ribben), met als gevolg een korte romp in verhouding tot de lichaamslengte, korte hals en niet-progressieve scoliose die doorgaans mild is."},"pt":{"name":"Disostose espondilo-costal autossómica recessiva"},"pl":{"name":"Autosomalna recesywna dyzostoza kręgowo-żebrowa","synonyms":["Zespół Jarcho i Levina"]},"cs":{"name":"Autozomálně recesivní spondylothorakální dysplázie","synonyms":["Jarchův-Levinův syndrom","Jarcho-Levinův syndrom"]},"uk":{"name":"Аутосомно-рецесивний спондилокостальний дизостоз","synonyms":["Синдром Ярхо-Левіна"],"definition":"A rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine."},"zh":{"name":"常染色体隐性脊椎肋骨发育不良","synonyms":["Jarcho-Levin综合征"]},"tr":{"name":"Otozomal resesif spondilokostal disostoz","synonyms":["Jarcho-Levin sendromu"]}},"xrefs":[{"source":"OMIM","code":"122600","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"277300","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608681","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609813","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613686","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616566","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q76.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.H","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"505492480"},{"source":"MONDO","code":"0010180","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537565","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265343","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6798","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":371195,"name":"Congenital disorder of glycosylation-related bone disorder","classifications":[147,156]},{"orpha":309505,"name":"Disorder of fucoglycosan synthesis","classifications":[150,156]},{"orpha":93454,"name":"Dysostosis with predominant vertebral and costal involvement","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"DLL3","name":"delta like canonical Notch ligand 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301771[PMID]","hgnc":"2909","ensembl":"ENSG00000090932","omim":"602768","loci":["19q13.2"]},{"symbol":"HES7","name":"hes family bHLH transcription factor 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301771[PMID]","hgnc":"15977","ensembl":"ENSG00000179111","omim":"608059","loci":["17p13.1"]},{"symbol":"LFNG","name":"LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301771[PMID]","hgnc":"6560","ensembl":"ENSG00000106003","omim":"602576","loci":["7p22.3"]},{"symbol":"MESP2","name":"mesoderm posterior bHLH transcription factor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301771[PMID]","hgnc":"29659","ensembl":"ENSG00000188095","omim":"605195","loci":["15q26.1"]},{"symbol":"RIPPLY2","name":"ripply transcriptional repressor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25343988[PMID]","hgnc":"21390","ensembl":"ENSG00000203877","omim":"609891","loci":["6q14.2"]},{"symbol":"TBX6","name":"T-box transcription factor 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27861764[PMID]","hgnc":"11605","ensembl":"ENSG00000149922","omim":"602427","loci":["16p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"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:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005108","label":"Abnormal intervertebral disk morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010978","label":"Abnormality of immune system physiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000902","label":"Rib fusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006655","label":"Rib segmentation abnormalities","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010306","label":"Short thorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000008","label":"Abnormal morphology of female internal genitalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000069","label":"Abnormality of the ureter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010772","label":"Anomalous pulmonary venous return","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002435","label":"Meningocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000269","label":"Prominent occiput","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003298","label":"Spina bifida occulta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100589","label":"Urogenital fistula","frequency":"Occasional (29-5%)","criteria":null}]}}