{"orpha":168621,"name":"Dysplasia of head of femur, Meyer type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DECF","Dysplasia epiphysealis capitis femoris","Meyer dysplasia"],"definition":"Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-168621/","orphanet_url":"https://www.orpha.net/en/disease/detail/168621","names":{"fr":{"name":"Dysplasie de la tête du fémur type Meyer","synonyms":["Dysplasie de Meyer","Dysplasie épiphysaire de la tête du fémur"],"definition":"La dysplasie de la tête fémorale de type Meyer est une forme modérée et localisée de dysplasie squelettique caractérisée par un retard et une ossification irrégulière de l'épiphyse supérieure du fémur."},"de":{"name":"Femurkopfdysplasie Typ Meyer","synonyms":["DECF","Dysplasia epiphysealis capitis femoris"],"definition":"Die Meyer-Dysplasie des Femurkopfes ist milde, räumlich begrenzte Skelettdysplasie. Sie ist gekennzeichnet durch verzögerte, unregelmäßige Ossifikation der Femurkopf-Epiphyse."},"es":{"name":"Displasia de la cabeza femoral tipo Meyer","synonyms":["Displasia de Meyer","Displasia epifisaria de la cabeza femoral"],"definition":"La displasia de Meyer de la cabeza femoral es una forma leve y localizada de displasia esquelética que se caracteriza por una osificación irregular y retrasada de la epífisis de la cabeza femoral."},"it":{"name":"Displasia della testa del femore, tipo Meyer","synonyms":["DECF","Displasia di Meyer","Displasia epifisaria della testa del femore"],"definition":"La displasia della testa del femore, tipo Meyer, è una forma non grave e localizzata di displasia scheletrica, caratterizzata da ossificazione ritardata e irregolare dell'epifisi della testa del femore."},"nl":{"name":"Dysplasie van femurkop, Meyer-type","synonyms":["DECF","Dysplasia epiphysealis capitis femoris","Dysplasie, Meyer-type"],"definition":"Een milde gelokaliseerde vorm van skeletdysplasie, gekenmerkt door vertraagde, onregelmatige ossificatie van epifyse van femurkop."},"pt":{"name":"Displasia da cabeça do femur, tipo Meyer","synonyms":["DECF","Displasia Meyer","Displasia epiphysealis capitis femoris"]},"pl":{"name":"Dysplazja głowy kości udowej, typ Meyera","synonyms":["DECF","Dysplasia epiphysealis capitis femoris","Meyer dysplasia"]},"cs":{"name":"Dysplázie hlavice femuru, Meyerův typ","synonyms":["DECF","Dysplasia epiphysealis capitis femoris","Meyer dysplasia"]},"uk":{"name":"Дисплазія головки стегнової кістки, тип Мейєра","synonyms":["DECF","Дисплазія епіфізарного відростка стегнової кістки","Дисплазія Мейєра"],"definition":"Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis."},"zh":{"name":"Meyer型股骨头发育不良","synonyms":["股骨头骨骺发育不良"],"definition":"Meyer型股骨头发育不良是一种以股骨头骨骺延迟、不规则的骨化为特征的轻度局部性骨骼发育不良。"},"tr":{"name":"Femur başı displazisi, Meyer tipi","synonyms":["Meyer displazisi","Displazi epiphysealis capitis femoris"]}},"xrefs":[{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.6Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"381445908"},{"source":"MONDO","code":"0015678","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274970","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93419,"name":"Rare bone disease","classifications":[199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"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":"2021-11-30","source":"10482209[PMID]_21138215[PMID]","terms":[{"hpo":"HP:0008829","label":"Delayed femoral head ossification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008835","label":"Multicentric femoral head ossification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031955","label":"Antalgic gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003565","label":"Elevated erythrocyte sedimentation rate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008800","label":"Limited hip movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012514","label":"Lower limb pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001374","label":"Congenital hip dislocation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030812","label":"Enlarged tonsils","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008812","label":"Flattened femoral head","frequency":"Very rare (<4-1%)","criteria":null}]}}