{"orpha":750,"name":"Pseudoachondroplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Pseudoachondroplastic dysplasia","Pseudoachondroplastic spondyloepiphyseal dysplasia"],"definition":"Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-750/","orphanet_url":"https://www.orpha.net/en/disease/detail/750","names":{"fr":{"name":"Pseudoachondroplasie","synonyms":["Dysplasie pseudoachondroplasique"],"definition":"La pseudoachondroplasie est caractérisée par un ralentissement sévère de la croissance associé à des déformations telles qu'une incurvation des membres inférieurs et une hyperlordose."},"de":{"name":"Pseudoachondroplasie","definition":"Die Pseudoachondroplasie ist gekennzeichnet durch stark verringertes Wachstum und durch Deformitäten wie O-Beinen und Hyperlordose."},"es":{"name":"Pseudoacondroplasia","synonyms":["Displasia espondiloepifisaria pseudoacondroplásica","Displasia pseudoacondroplásica"],"definition":"La pseudoacondroplasia se caracteriza por un déficit de crecimiento grave y malformaciones, tales como piernas arqueadas e hiperlordosis."},"it":{"name":"Pseudoacondroplasia","synonyms":["Displasia pseudoacondroplasica","Displasia spondiloepifisaria pseudoacondroplasica"]},"nl":{"name":"Pseudoachondroplasie","synonyms":["Pseudoachondroplastische dysplasie","Pseudoachondroplastische spondylo-epifysaire dysplasie"],"definition":"Pseudoachondroplasie wordt gekenmerkt door ernstige groeideficiëntie en deformatie zoals genu varum (O-benen) en hyperlordose."},"pt":{"name":"Pseudo-acondroplasia","definition":"A pseudoacondroplasia é caracterizada por atraso grave de crescimento e deformações como pernas arqueadas e hiperlordose."},"pl":{"name":"Pseudoachondroplazja","synonyms":["Dysplazja pseudoachondroplastyczna","Pseudoachondroplastyczna dysplazja kręgowo-przynasadowa"]},"cs":{"name":"Pseudoachondroplázie","synonyms":["Pseudoachondroplastická dysplázie","Pseudoachondroplastická spondyloepifyzární dysplázie"]},"uk":{"name":"Псевдоахондроплазія","synonyms":["Псевдоахондропластична дисплазія","Псевдоахондропластична спондилоепіфізарна дисплазія"],"definition":"Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis."},"zh":{"name":"假性软骨发育不全","synonyms":["假性软骨发育不全性脊椎骨骺发育不良"]},"tr":{"name":"Psödoakondroplazi","synonyms":["Psödoakondroplastik displazi","Psödoakondroplastik spondiloepifizyal displazi"]}},"xrefs":[{"source":"OMIM","code":"177170","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.60","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1192649257"},{"source":"MONDO","code":"0008322","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535819","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0410538","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4540","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93429,"name":"Multiple epiphyseal dysplasia and pseudoachondroplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"COMP","name":"cartilage oligomeric matrix protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301660[PMID]","hgnc":"2227","ensembl":"ENSG00000105664","omim":"600310","loci":["19p13.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.3,"area":"Worldwide","status":"Not yet validated","source":"20301660[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-06-03","source":"20301660[PMID]_29530484[PMID]_21922596[PMID]","terms":[{"hpo":"HP:0008873","label":"Disproportionate short-limb short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002663","label":"Delayed epiphyseal ossification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0020152","label":"Distal joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002761","label":"Generalized joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006149","label":"Increased laxity of fingers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010582","label":"Irregular epiphyses","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045086","label":"Knee joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009826","label":"Limb undergrowth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002938","label":"Lumbar hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003025","label":"Metaphyseal irregularity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003016","label":"Metaphyseal widening","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:0003026","label":"Short long bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009803","label":"Short phalanx of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005720","label":"Shortening of all metacarpals","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100531","label":"Wind-swept deformity of the knees","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009107","label":"Abnormal ossification involving the femoral head and neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006499","label":"Abnormality of femoral epiphysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008807","label":"Acetabular dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004568","label":"Beaking of vertebral bodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010579","label":"Cone-shaped epiphysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003015","label":"Flared metaphysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003180","label":"Flat acetabular roof","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002970","label":"Genu varum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003090","label":"Hypoplasia of the capital femoral epiphysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008839","label":"Hypoplastic pelvis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006460","label":"Increased laxity of ankles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008833","label":"Irregular acetabular roof","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004236","label":"Irregular carpal bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001377","label":"Limited elbow extension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003093","label":"Limited hip extension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100864","label":"Short femoral neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003756","label":"Skeletal myopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010585","label":"Small epiphyses","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010646","label":"Cervical spine instability","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003311","label":"Hypoplasia of the odontoid process","frequency":"Very rare (<4-1%)","criteria":null}]}}