{"orpha":178382,"name":"Congenital vertical talus","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital convex foot","Congenital convex pes valgus","Congenital rocker-bottom foot"],"definition":"Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-178382/","orphanet_url":"https://www.orpha.net/en/disease/detail/178382","names":{"fr":{"name":"Pied convexe congénital","synonyms":["Pied en piolet congénital"],"definition":"Le pied convexe congénital isolé (PCC) est une malformation rare du pied reconnaissable à la naissance, liée à une luxation astragalo-scaphoïdienne avec, radiologiquement, une orientation verticale de l'astragale."},"de":{"name":"Vertikaler Talus, kongenitaler","synonyms":["Fuß, konvexer, kongenitaler","Schaukelfuß"]},"es":{"name":"Astrágalo vertical congénito","synonyms":["Pie convexo congénito","Pie en mecedora congénito","Pie valgo convexo congénito"],"definition":"El astrágalo vertical congénito aislado (TVC) es una deformidad del pie poco frecuente reconocible al nacimiento por una luxación de la articulación talonavicular, que resulta en una orientación casi vertical del astrágalo característica en la radiografía."},"it":{"name":"Piede talo verticale congenito","synonyms":["Pes valgus convesso congenito","Piede congenito a \"dondolo\"","Piede convesso congenito"]},"nl":{"name":"Congenitale talus verticalis","synonyms":["Congenitale convexe pes valgus","Congenitale convexe voet","Congenitale rocker-bottom-voet"],"definition":"Geïsoleerde congenitale talus verticalis is een zeldzame deformiteit van voet, herkenbaar bij de geboorte aan luxatie van talonaviculair gewricht die resulteert in een typische nagenoeg verticale oriëntatie van talus waarneembaar met radiografie."},"pt":{"name":"Talo vertical congénito","synonyms":["Pes valgus convexo congénito","Pé convexo congénito"]},"pl":{"name":"Wrodzone pionowe ustawienie kości skokowej","synonyms":["Wrodzona stopa wypukła koślawa","Wrodzone stopy typu rocker-bottom","Wrodzone stopy wypukłe"]},"cs":{"name":"Vrozený strmý talus","synonyms":["Vrozená plochá noha","Vrozený plochý pes valgus","Vrozená kolébková noha"]},"uk":{"name":"Вроджена вертикальна таранна кістка","synonyms":["Вроджена опукла стопа","Вроджена опукла вальгусна стопа","Вроджена клишоногість стопи"],"definition":"Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus."},"zh":{"name":"先天性垂直距骨","synonyms":["先天性摇椅足"],"definition":"先天性垂直距骨（CVT）是一种罕见的垂足畸形，根据出生时距舟关节脱位即可诊断，其影像学表现为距骨处于垂直位置。"},"tr":{"name":"Doğumsal vertikal talus","synonyms":["Doğumsal konveks ayak","Doğumsal konveks pes valgus","Doğumsal rocker-bottom ayak"]}},"xrefs":[{"source":"OMIM","code":"192950","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q66.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LB98.4","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1525079646"},{"source":"MONDO","code":"0008652","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0240912","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5488","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10066242","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294944,"name":"Congenital deformities of limbs","classifications":[147,156]}],"children":[{"orpha":295203,"name":"Congenital vertical talus, bilateral","type":"Clinical subtype"},{"orpha":295201,"name":"Congenital vertical talus, unilateral","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"HOXD10","name":"homeobox D10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"5133","ensembl":"ENSG00000128710","omim":"142984","loci":["2q31.1"],"via":{"orpha":295201,"name":"Congenital vertical talus, unilateral"}},{"symbol":"HOXD10","name":"homeobox D10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15146389[PMID]_16450407[PMID]","hgnc":"5133","ensembl":"ENSG00000128710","omim":"142984","loci":["2q31.1"],"via":{"orpha":295203,"name":"Congenital vertical talus, bilateral"}}],"inheritance":["Autosomal dominant"],"onset":["Infancy","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":"2021-12-01","source":"26337950[PMID]_19963176[PMID]_34752243[PMID]","terms":[{"hpo":"HP:0008138","label":"Equinus calcaneus","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001436","label":"Abnormality of the foot musculature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001771","label":"Achilles tendon contracture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030311","label":"Lower extremity joint dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008081","label":"Pes valgus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001838","label":"Rocker bottom foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005684","label":"Distal arthrogryposis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025238","label":"Foot pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030840","label":"Ankle pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030268","label":"Hyperplastic callus formation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002475","label":"Myelomeningocele","frequency":"Occasional (29-5%)","criteria":null}]}}