{"orpha":3275,"name":"Spondylocarpotarsal synostosis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Synspondylism"],"definition":"A spondylodysplasic dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an shortened trunk and hence disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis and infrequently, club feet.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3275/","orphanet_url":"https://www.orpha.net/en/disease/detail/3275","names":{"fr":{"name":"Synostose spondylo-carpo-tarsienne","synonyms":["Synspondylisme congénital"],"definition":"Dysplasie spondylo-dysplasique caractérisée, sur le plan clinique, par des fusions vertébrales progressives après la naissance se manifestant fréquemment par des vertèbres constituées en blocs, donnant lieu à un raccourcissement du tronc et, par conséquent, à une petite taille disproportionnée, une scoliose, une lordose, une synostose du carpe et du tarse et, dans de rares cas, un pied bot."},"de":{"name":"Spondylo-karpo-tarsale Synostose","synonyms":["Synspondylismus"],"definition":"Eine spondylodysplastische Dysplasie, die klinisch durch postnatal fortschreitende Wirbelfusionen gekennzeichnet ist, die sich häufig in Form von Blockwirbeln manifestieren und zu einem verkürzten Rumpf und damit zu Kleinwuchs, Skoliose, Lordose, Synostosen der Handwurzel und der Fußwurzel und selten zu Klumpfüßen führen."},"es":{"name":"Sinostosis espondilo-carpo-tarsal","synonyms":["Sinespondilismo","Sinostosis espondilocarpotarsal"],"definition":"Es una displasia espondilodisplásica caracterizada clínicamente por fusiones vertebrales progresivas postnatales que se manifiestan con frecuencia como vértebras en bloque, lo que conduce a un tronco acortado y, por lo tanto, a talla baja desproporcionada, escoliosis, lordosis, sinostosis carpiana y tarsiana e, infrecuentemente, pies equinovaros."},"it":{"name":"Sinostosi spondilo-carpo-tarsale","synonyms":["Sinspondilismo"],"definition":"La sinostosi spondilo-carpo-tarsale (SCT) è una displasia spondilodisplastica caratterizzata, dal punto di vista clinico, da fusioni vertebrali postnatali progressive, che spesso si manifestano sotto forma di blocco vertebrale, contribuendo all'accorciamento del tronco e alla conseguente bassa statura sproporzionata associata a scoliosi, lordosi, sinostosi carpale e tarsale e, raramente, piede equino."},"nl":{"name":"Spondylocarpotarsale synostose","synonyms":["Synspondylisme"],"definition":"Een spondylodysplastische dysplasie, klinisch gekarakteriseerd door postnatale progressieve fusies van wervels, wat zich vaak manifesteert als blokwervels en bijdraagt tot een verkorte romp en dus onevenredig kleine gestalte, scoliose, lordose, carpale en tarsale synostose en, eerder uitzonderlijk, klompvoeten."},"pt":{"name":"Sinostose espondilo-carpo-társica","synonyms":["Sinspondilia"]},"pl":{"name":"Synostoza kręgowo-nadgarstkowo-skokowa","synonyms":["Synspondylism"]},"cs":{"name":"Spondylokarpotarzální synostóza","synonyms":["Synspondylismus"]},"uk":{"name":"Спондилокарпотарзальний синостоз","synonyms":["Синспондилізм"],"definition":"A spondylodysplasic dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an shortened trunk and hence disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis and infrequently, club feet."},"zh":{"name":"脊柱踝跗骨融合","synonyms":["脊椎-腕骨-跗骨融合综合症"]},"tr":{"name":"Spondilokarpotarsal sinostoz","synonyms":["Synspondilizm"]}},"xrefs":[{"source":"OMIM","code":"272460","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.5Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1087906699"},{"source":"MONDO","code":"0010094","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535780","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1848934","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4974","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93425,"name":"Filamin-related bone disorder","classifications":[156]},{"orpha":93434,"name":"Spondylodysplastic dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"FLNB","name":"filamin B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301736[PMID]","hgnc":"3755","ensembl":"ENSG00000136068","omim":"603381","loci":["3p14.3"]},{"symbol":"MYH3","name":"myosin heavy chain 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27381093[PMID]","hgnc":"7573","ensembl":"ENSG00000109063","omim":"160720","loci":["17p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":35.0,"area":"Worldwide","status":"Validated","source":"29566257[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29566257[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-01-07","source":"20301736[PMID]_39086440[PMID]_29566257[PMID]","terms":[{"hpo":"HP:0009702","label":"Carpal synostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003498","label":"Disproportionate short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006297","label":"Enamel hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002945","label":"Intervertebral space narrowing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002938","label":"Lumbar hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008368","label":"Tarsal synostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002948","label":"Vertebral fusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001216","label":"Delayed ossification of carpal bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null}]}}