{"orpha":94068,"name":"Spondyloepiphyseal dysplasia congenita","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital spondyloepiphyseal dysplasia","SEDC","Spranger-Wiedemann disease"],"definition":"Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-94068/","orphanet_url":"https://www.orpha.net/en/disease/detail/94068","names":{"fr":{"name":"Dysplasie spondylo-épiphysaire congénitale","synonyms":["DSEC","Maladie de Spranger-Wiedemann","SEDC"]},"de":{"name":"Dysplasie, spondyloepiphysäre, kongenitaler Typ"},"es":{"name":"Displasia espondiloepifisaria congénita","definition":"Es una condrodisplasia caracterizada por talla baja desproporcionada, epífisis anómalas y aplanamiento de los cuerpos vertebrales."},"it":{"name":"Displasia spondiloepifisaria congenita"},"nl":{"name":"Spondylo-epifysaire dysplasia congenita","synonyms":["Congenitale spondylo-epifysaire dysplasie","SEDC","Ziekte van Spranger-Wiedemann"],"definition":"Spondylo-epifysaire dysplasia congenita (SEDC) is een chondrodysplasie, gekenmerkt door disproportionele kleine gestalte, abnormale epifysen, en afgeplatte wervellichamen."},"pt":{"name":"Displasia espondiloepifisária, tipo congénito"},"pl":{"name":"Wrodzona dysplazja kręgowo-nasadowa","synonyms":["Choroba Spranger i Wiedemanna","SEDC","Wrodzona dysplazja kręgowo-nasadowa"]},"cs":{"name":"Vrozená spondyloepifyzární dysplázie","synonyms":["Congenital spondyloepiphyseal dysplasia","SEDC","Spranger-Wiedemann disease"]},"uk":{"name":"Спондилоепіфізарна дисплазія вроджена","synonyms":["Вроджена спондилоепіфізарна дисплазія","SEDC","Хвороба Шпрангера-Відемана"],"definition":"Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies."},"zh":{"name":"先天性脊柱骨骺发育不良","synonyms":["先天性脊柱骨骺发育不良"],"definition":"先天性脊椎骨骺发育不良（SEDC）是一种以身材矮小、骨骺异常和扁平椎骨为特征的软骨发育不良。"},"tr":{"name":"Spondiloepifizyel displazi konjenita","synonyms":["SEDC","Spranger-Wiedemann hastalığı","Doğumsal spondiloepifizyal displazi"]}},"xrefs":[{"source":"OMIM","code":"183900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"621109310"},{"source":"MONDO","code":"0008471","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535788","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2745959","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4987","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10062920","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]},{"orpha":93421,"name":"Type 2 collagen-related bone disorder","classifications":[156]}],"children":[],"genes":[{"symbol":"COL2A1","name":"collagen type II alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26030151[PMID]","hgnc":"2200","ensembl":"ENSG00000139219","omim":"120140","loci":["12q13.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"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":"2020-09-21","source":"31021589[PMID]_31972903[PMID]","terms":[{"hpo":"HP:0045060","label":"Aplasia/hypoplasia involving bones of the extremities","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003521","label":"Disproportionate short-trunk short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010575","label":"Dysplasia of the femoral head","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002938","label":"Lumbar hyperlordosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100569","label":"Abnormally ossified vertebrae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003180","label":"Flat acetabular roof","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030838","label":"Hip pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040194","label":"Increased head circumference","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009824","label":"Upper limb undergrowth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002795","label":"Abnormal respiratory system physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003418","label":"Back pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001552","label":"Barrel-shaped chest","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008462","label":"Cervical instability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000162","label":"Glossoptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030839","label":"Knee pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008755","label":"Laryngotracheomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002996","label":"Limited elbow movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100864","label":"Short femoral neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003097","label":"Short femur","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003026","label":"Short long bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010585","label":"Small epiphyses","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002176","label":"Spinal cord compression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003306","label":"Spinal rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Occasional (29-5%)","criteria":null}]}}