{"orpha":166016,"name":"Multiple epiphyseal dysplasia, Lowry type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Multiple epiphyseal dysplasia with Robin phenotype"],"definition":"Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-166016/","orphanet_url":"https://www.orpha.net/en/disease/detail/166016","names":{"fr":{"name":"Dysplasie épiphysaire multiple type Lowry","synonyms":["Dysplasie épiphysaire multiple avec phénotype de Robin"],"definition":"Une dysplasie osseuse primaire rare caractérisée par de petites épiphyses plates (surtout les épiphyses fémorales capitales), un raccourcissement rhizomélique des membres, une fente du palais secondaire, une micrognathie, de légères contractures articulaires et une dysmorphie faciale (incluant des fentes palpébrales légèrement obliques en haut et en dehors, un hypertélorisme, une pointe nasale large). Les signes additionnels rapportés incluent une scoliose, un genu valgum, un léger pectus excavatum, une platyspondylie, une luxation des têtes radiales, une brachydactylie, des fibulas hypoplastiques et des pieds varus équins."},"de":{"name":"Dysplasie, epiphysäre multiple, Typ Lowry","synonyms":["Dysplasie, epiphysäre multiple, mit Robin Phänotyp"],"definition":"Die multiple epiphysäre Dysplasie Typ Lowry ist eine seltene primäre Knochendysplasie, die durch kleine flache Epiphysen (insbesondere die Epiphysen der Oberschenkelknochen), rhizomele Verkürzung der Gliedmaßen, sekundäre Gaumenspalte, Mikrognathie, leichte Gelenkkontrakturen und faziale Dysmorphien (einschließlich leicht nach oben geneigter Lidspalten, Hypertelorismus, breite Nasenspitze) gekennzeichnet ist. Zusätzlich werden Skoliose, Genu valgum, leichter Pectus excavatum, Platyspondylie, dislozierte Radialköpfe, Brachydaktylie, hypoplastische Fibulae und Talipes equinovarus berichtet."},"es":{"name":"Displasia epifisaria múltiple tipo Lowry","synonyms":["Displasia epifisaria múltiple con fenotipo Robin","Displasia múltiple epifisaria con fenotipo de Pierre Robin"],"definition":"Es una displasia ósea primaria poco frecuente caracterizada por epífisis pequeñas y planas (especialmente las epifisis de la cabeza femoral), acortamiento rizomélico de las extremidades, hendidura del paladar secundario, micrognatia, leves contracturas articulares y dismorfia facial (incluyendo leve inclinación hacia arriba de las fisuras palpebrales, hipertelorismo, punta nasal ancha). Otras características adicionales descritas incluyen escoliosis, genu valgo, pectus excavatum leve, platiespondilia, luxación de las cabezas radiales, braquidactilia, fíbulas hipoplásicas y talipes equinovarus."},"it":{"name":"Displasia epifisaria multipla tipo Lowry","synonyms":["Displasia epifisaria multipla con fenotipo Robin"],"definition":"La displasia epifisaria multipla tipo Lowry è una displasia scheletrica primitiva rara, caratterizzata da epifisi piccole e piatte (in particolare quelle della testa del femore), accorciamento rizomelico degli arti, schisi del palato secondario, micrognazia, lievi contratture articolari e dismorfismi facciali (rime palpebrali oblique verso l'alto, ipertelorismo, punta del naso larga). Altri segni clinici sono la scoliosi, il ginocchio valgo, il lieve pectus excavatum, la platispondilia, la dislocazione delle teste del radio, la brachidattilia, l'ipoplasia del perone e i piedi equino-vari."},"nl":{"name":"Multipele epifysaire dysplasie, Lowry-type","synonyms":["Meervoudige epifysaire dysplasie met Robin-fenotype","Meervoudige epifysaire dysplasie, Lowry-type"],"definition":"Multipele epifysaire dysplasie, Lowry-type is een zeldzame primaire botdysplasie die gekarakteriseerd wordt door kleine en platte epifysen (voornamelijk de epifyse van de heupkop), rhizomele verkorting van de ledematen, gespleten secundair verhemelte, micrognathie, milde gewrichtscontracturen en faciale dysmorfie (inclusief mild opwaartse ooglidspleten, hypertelorisme, brede neuspunt). Bijkomend gerapporteerde kenmerken zijn onder meer scoliose, X-benen, milde pectus excavatum, platyspondylie, dislocatie van radiuskop, brachydactylie, hypoplastische kuitbeenderen en klompvoet."},"pt":{"name":"Displasia epifisária múltipla, tipo Lowry"},"pl":{"name":"Dysplazja wielonasadowa, typ Lowry'ego","synonyms":["Dysplazja wielonasadowa z fenotypem Robina"]},"cs":{"name":"Mnohočetná epifyzární dysplázie, Lowryho typ","synonyms":["Epifyzární dysplázie, Lowryho typ","Mnohočetná epifyzární dysplázie s Robinovým fenotypem"]},"uk":{"name":"Множинна епіфізарна дисплазія, тип Лоурі","synonyms":["Множинна епіфізарна дисплазія з фенотипом Робіна"],"definition":"Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus."},"zh":{"name":"Lowry 型多发性骨骺发育不良","synonyms":["多发性骨骺发育不良伴Robin表型"],"definition":"Lowry型多发性骨骺发育不良是一种罕见的原发性骨发育不良，其特征是小而扁平的骨骺(尤其是股骨头骨骺)、肢体近端缩短、继发性腭裂、小颌畸形、轻度关节挛缩和面部畸形(包括轻度上斜睑裂、眼距过宽、宽鼻尖)。其他报道过的特征包括脊柱侧凸、膝外翻、轻度漏斗状胸、扁平椎、桡骨头脱位、短指/趾畸形、腓骨发育不良和马蹄内翻足。"},"tr":{"name":"Çoklu epifiz displazisi, Lowry tipi","synonyms":["Robin fenotip ile seyreden çoklu epifizal displazi"]}},"xrefs":[{"source":"OMIM","code":"601560","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.61","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011109","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563291","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832112","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":251,"name":"Multiple epiphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"8723087[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8723087[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-08-16","source":"8723087[PMID]","terms":[{"hpo":"HP:0000766","label":"Abnormal sternum morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0410005","label":"Cleft hard palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002663","label":"Delayed epiphyseal ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003083","label":"Dislocated radial head","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002656","label":"Epiphyseal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003038","label":"Fibular hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003071","label":"Flattened epiphysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100168","label":"Fragmented epiphyses","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008905","label":"Rhizomelia","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:0010585","label":"Small epiphyses","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006471","label":"Fixed elbow flexion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006380","label":"Knee flexion contracture","frequency":"Frequent (79-30%)","criteria":null}]}}