{"orpha":85198,"name":"Dysspondyloenchondromatosis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85198/","orphanet_url":"https://www.orpha.net/en/disease/detail/85198","names":{"fr":{"name":"Dysspondyloenchondromatose","definition":"La dysspondyloenchondromatose est une dysplasie squelettique rare caractérisée par une anisospondylie et des enchondromes multiples au niveau des vertèbres et des parties métaphysaires et diaphysaires des os longs tubulaires, conduisant à une cyphoscoliose et une asymétrie des membres inférieurs."},"de":{"name":"Dysspondyloenchondromatose"},"es":{"name":"Disespondiloencondromatosis","definition":"Es una displasia esquelética poco frecuente caracterizada por anisospondilia y encondromas múltiples en las vértebras y en la porción metafisaria y diafisaria de los huesos tubulares largos, que conduce a cifoescoliosis y asimetría de las extremidades inferiores."},"it":{"name":"Dis-spondiloencondromatosi","definition":"La dis-spondiloencondromatosi è una displasia scheletrica rara caratterizzata da anisospondilia ed encondromi multipli nelle vertebre, nelle metafisi e nelle diafisi delle ossa tubulari lunghe, che determinano cifoscoliosi e asimmetria degli arti inferiori."},"nl":{"name":"Dysspondylo-enchondromatose","definition":"Dysspondylo-enchondromatose is een zeldzame skeletdysplasie die gekarakteriseerd wordt door anisospondylie en meervoudige enchondromen in wervels en in de metafysaire en diafysaire delen van pijpbeenderen, wat leidt tot kyfoscoliose en asymmetrie van de onderste ledematen."},"pt":{"name":"Disespondiloencondromatose"},"pl":{"name":"Dysspondyloenchondromatoza"},"cs":{"name":"Dysspondyloenchondromatóza"},"uk":{"name":"Диспондилоенхондроматоз","definition":"Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry."},"zh":{"name":"脊柱内生软骨瘤病"},"tr":{"name":"Disspondiloenkondromatoz"}},"xrefs":[{"source":"ICD-10","code":"Q78.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"942697844"},{"source":"MONDO","code":"0019412","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302548","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93450,"name":"Primary bone dysplasia with disorganized development of skeletal components","classifications":[147,156,199]}],"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":"22570642[PMID]_26250472[PMID]","hgnc":"2200","ensembl":"ENSG00000139219","omim":"120140","loci":["12q13.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"24357493[PMID]_26250472[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24357493[PMID]_26250472[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"24357493[PMID]_26250472[PMID]","terms":[{"hpo":"HP:0003037","label":"Enlarged joints","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100777","label":"Exostoses","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002761","label":"Generalized joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100559","label":"Lower limb asymmetry","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005701","label":"Multiple enchondromatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012221","label":"Pretibial blistering","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200041","label":"Skin erosion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002657","label":"Spondylometaphyseal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002991","label":"Abnormal fibula morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004039","label":"Abnormality of ulnar metaphysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002879","label":"Anisospondyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005868","label":"Metaphyseal enchondromatosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002758","label":"Osteoarthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null}]}}