{"orpha":2501,"name":"Metaphyseal chondrodysplasia, Spahr type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, primary bone dysplasia disease characterized by usually moderate, postnatal short stature, progressive genu vara deformity, a waddling gait, and radiological signs of metaphyseal dysplasia (i.e. irregular, sclerotic and widened metaphyses), in the absence of biochemical abnormalities suggestive of rickets disease. Intermittent knee pain, lordosis, and delayed motor development may also occasionally be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2501/","orphanet_url":"https://www.orpha.net/en/disease/detail/2501","names":{"fr":{"name":"Chondrodysplasie métaphysaire type Spahr","definition":"Dysplasie osseuse primaire rare, d'origine génétique, caractérisée par une petite taille, généralement de sévérité modérée, observée à la naissance, une déformation progressive en genu varum, une démarche dandinante et des signes radiologiques de dysplasie métaphysaire (à savoir des métaphyses irrégulières, sclérosées et élargies), en l'absence d'anomalies biochimiques évocatrices du rachitisme. Des douleurs intermittentes du genou, une lordose et un retard de développement moteur peuvent être occasionnellement associés."},"de":{"name":"Chondrodysplasie, metaphysäre, Typ Spahr","definition":"Eine genetisch bedingte primäre Knochendysplasie, die gekennzeichnet ist durch eine meist mäßige, postnatale Kleinwüchsigkeit, eine fortschreitende Genu-Vara-Deformität, einen Watschelgang und radiologische Anzeichen einer metaphysären Dysplasie (d. h. unregelmäßige, sklerotische und verbreiterte Metaphysen), ohne dass biochemische Anomalien vorliegen, die auf eine Rachitis-Erkrankung hinweisen. Intermittierende Knieschmerzen, Lordose und eine verzögerte motorische Entwicklung können ebenfalls gelegentlich auftreten."},"es":{"name":"Condrodisplasia metafisaria tipo Spahr","definition":"Es una displasia ósea primaria, genética y poco frecuente, caracterizada por talla baja postnatal por lo general moderada, deformidad genu varo progresiva, marcha anserina y signos radiológicos consistentes con displasia metafisaria (tales como metáfisis irregulares, escleróticas y ensanchadas), en ausencia de anomalías bioquímicas que sugieran raquitismo. También puede asociar ocasionalmente dolor intermitente de rodilla, lordosis y retraso del desarrollo motor."},"it":{"name":"Condrodisplasia metafisaria tipo Spahr","definition":"È una displasia scheletrica primitiva rara, di origine genetica, caratterizzata da bassa statura postnatale di solito moderata, ginocchio progressivamente varo e andatura a base allargata. Le radiografie evidenziano una displasia metafisaria (metafisi irregolari, sclerotiche e allargate), in assenza di anomalie biochimiche suggestive di rachitismo. Occasionalmente, si associa a dolore intermittente alle ginocchia, lordosi e ritardo dello sviluppo motorio."},"nl":{"name":"Metafysaire chondrodysplasie, Spahr-type","definition":"Een zeldzame, genetische primaire botdysplasie die gekarakteriseerd wordt door meestal matige, postnatale kleine gestalte, progressieve genu vara, een waggelende gang, en radiologische tekenen van metafysaire dysplasie (i.e. onregelmatige, sclerotische en verbrede metafysen), in afwezigheid van biochemische afwijkingen die wijzen op rachitis. Intermitterende kniepijn, lordose, en motorische ontwikkelingsachterstand kunnen occasioneel ook geassocieerd zijn."},"pt":{"name":"Condrodisplasia metafisária, tipo Spahr"},"pl":{"name":"Chondrodysplazja przynasadowa typu Spahra"},"cs":{"name":"Metafyzární chondrodysplázie, Spahrův typ"},"uk":{"name":"Метафізарна хондродисплазія, тип Шпара","definition":"A rare, genetic, primary bone dysplasia disease characterized by usually moderate, postnatal short stature, progressive genu vara deformity, a waddling gait, and radiological signs of metaphyseal dysplasia (i.e. irregular, sclerotic and widened metaphyses), in the absence of biochemical abnormalities suggestive of rickets disease. Intermittent knee pain, lordosis, and delayed motor development may also occasionally be associated."},"zh":{"name":"干骺端软骨发育不良Spahr型"},"tr":{"name":"Metafizer kondrodisplazi, Spahr tipi"}},"xrefs":[{"source":"OMIM","code":"250400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.7","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1856002752"},{"source":"MONDO","code":"0009597","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537353","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432225","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3563","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93430,"name":"Multiple metaphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"MMP13","name":"matrix metallopeptidase 13","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24648384[PMID]","hgnc":"7159","ensembl":"ENSG00000137745","omim":"600108","loci":["11q22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":18.0,"area":"Worldwide","status":"Validated","source":"24648384[PMID]_2225533[PMID]_19615667[PMID]_24781753[PMID]_18553549[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24648384[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003498","label":"Disproportionate short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002970","label":"Genu varum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005871","label":"Metaphyseal chondrodysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100255","label":"Metaphyseal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006409","label":"Progressive leg bowing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006385","label":"Short lower limbs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null}]}}