{"orpha":1797,"name":"Autosomal dominant spondylocostal dysostosis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal dominant spondylocostal dysplasia"],"definition":"A very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1797/","orphanet_url":"https://www.orpha.net/en/disease/detail/1797","names":{"fr":{"name":"Dysostose spondylo-costale autosomique dominante","synonyms":["Dysplasie spondylo-costale autosomique dominante"],"definition":"Forme très rare et bénigne de dysostose spondylo-costale caractérisée par des anomalies de segmentation vertébrale et costale, souvent associées à un nombre réduit de côtes."},"de":{"name":"Dysostose, spondylokostale, autosomal-dominante","definition":"Die autosomal-dominante Spondylo-costale Dysostose ist eine sehr seltene, milde Form der Spondylo-costalen Dysostose und gekennzeichnet durch Segmentierungsdefekte der Wirbel und Rippen, oft in Verbindung mit verminderter Rippenzahl."},"es":{"name":"Disostosis espondilocostal forma dominante","definition":"Es una forma muy poco frecuente y leve de disostosis espondilocostal caracterizada por defectos de segmentación vertebrales y costales, a menudo con reducción del número de costillas."},"it":{"name":"Disostosi spondilocostale autosomica dominante","definition":"La disostosi spondilocostale autosomica dominante è una forma lieve molto rara di disostosi spondilocostale, caratterizzata da difetti nella segmentazione delle vertebre e delle costole, spesso associati ad una riduzione del numero delle costole."},"nl":{"name":"Autosomaal dominante spondylocostale dysostose","synonyms":["Autosomaal dominante spondylocostale dysplasie"],"definition":"Een zeer zeldzame en milde vorm van spondylocostale dysostose, gekarakteriseerd door defecten van vertebrale en costale segmentatie, vaak met reductie van het aantal ribben."},"pt":{"name":"Disostose espondilo-costal autossómica dominante","synonyms":["Displasia espondilo-costal dominante"]},"pl":{"name":"Autosomalna dominująca dyzostoza kręgowo-żebrowa","synonyms":["Autosomalna dominująca dysplazja kręgowo-żebrowa"]},"cs":{"name":"Autozomálně dominantní spondylokostální dysostóza","synonyms":["Autozomálně dominantní spondylokostální dysplázie"]},"uk":{"name":"Аутосомно-домінантний спондилокостальний дизостоз","synonyms":["Аутосомно-домінантна спондилокостальна дисплазія"],"definition":"A very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs."},"zh":{"name":"常染色体显性遗传脊椎肋骨发育不全","synonyms":["常染色体显性遗传性脊椎肋骨发育不全"]},"tr":{"name":"Otozomal dominant spondilokostal disostoz","synonyms":["Otozomal dominant spondilokostal displazi"]}},"xrefs":[{"source":"OMIM","code":"122600","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q76.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.H","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1125033221"},{"source":"MONDO","code":"0015826","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274761","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93454,"name":"Dysostosis with predominant vertebral and costal involvement","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"TBX6","name":"T-box transcription factor 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23335591[PMID]","hgnc":"11605","ensembl":"ENSG00000149922","omim":"602427","loci":["16p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["No data available"],"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:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000269","label":"Prominent occiput","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010306","label":"Short thorax","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","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:0000772","label":"Abnormal rib morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005107","label":"Abnormal sacrum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000921","label":"Missing ribs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000913","label":"Posterior rib fusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003298","label":"Spina bifida occulta","frequency":"Occasional (29-5%)","criteria":null}]}}