{"orpha":93307,"name":"Multiple epiphyseal dysplasia type 4","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive multiple epiphyseal dysplasia","EDM4","MED4","Polyepiphyseal dysplasia type 4","rMED"],"definition":"Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93307/","orphanet_url":"https://www.orpha.net/en/disease/detail/93307","names":{"fr":{"name":"Dysplasie épiphysaire multiple type 4","synonyms":["Dysplasie polyépiphysaire autosomique récessive","Dysplasie polyépiphysaire type 4","Dysplasie épiphysaire multiple autosomique récessive","rMED"],"definition":"La dysplasie épiphysaire multiple type 4 est une dysplasie épiphysaire multiple survenant tardivement pendant l'enfance. Elle est caractérisée par une douleur articulaire impliquant la hanche, les genoux, les poignets et les doigts, avec une limitation occasionnelle des mouvements articulaires, une déformation des mains, des pieds et des genoux (pied bot, clinodactylie, brachydactylie), une scoliose et une taille adulte légèrement réduite. La radiographie révèle des épiphyses plates avec une arthrite précoce de la hanche et une rotule à double couche. La maladie suit un mode de transmission autosomique récessif. Elle est allélique au nanisme diastrophique, à l'atélostéogenèse type 2 et à l'achondrogenèse type 1B, avec lesquels elle forme un continuum clinique."},"de":{"name":"Dysplasie, epiphysäre multiple, Typ 4","synonyms":["Autosomal-rezessive multiple epiphysäre Dysplasie","Dysplasie, polyepiphysäre, Typ 4","EDM4","MED4","rMED"]},"es":{"name":"Displasia epifisaria múltiple tipo 4","synonyms":["Displasia epifisaria múltiple autosómica recesiva","Displasia poliepifisaria tipo 4","EDM4","MED4","rMED"],"definition":"Es una displasia epifisaria múltiple de inicio en la infancia tardía caracterizada por dolor en las articulaciones que afecta a caderas, rodillas, muñecas y dedos de las manos, con limitación ocasional de la movilidad articular, deformidad de las manos, pies y rodillas (pie equinovaro, clinodactilia, braquidactilia), escoliosis y talla adulta ligeramente reducida. Las radiografías muestran epífisis planas con artritis temprana de cadera y rótula en doble capa. Esta displasia sigue un modo de transmisión autosómico recesivo. La enfermedad es alélica con la displasia diastrófica, la atelosteogénesis tipo 2 y acondrogénesis tipo 1B, con las que forma un espectro clínico."},"it":{"name":"Displasia epifisaria multipla, tipo 4","synonyms":["Displasia epifisaria multipla autosomica recessiva","Displasia poliepifisaria, tipo 4","EDM4","MED4","rMED"],"definition":"La displasia epifisaria multipla tipo 4 è una displasia epifisaria multipla ad esordio nella tarda infanzia. E' caratterizzata da dolore articolare localizzato alle anche, alle ginocchia, ai polsi e alle dita, raramente associato ad una riduzione dei movimenti articolari, deformità delle mani, dei piedi e delle ginocchia (piede equino, clinodattilia, brachidattilia), scoliosi e statura lievemente ridotta nell'età adulta. Le radiografie mostrano epifisi piatte con artrite precoce dell'anca e rotula a doppio contorno. La displasia epifisaria multipla, tipo 4 ha una trasmissione autosomica recessiva. La malattia è allelica al nanismo diastrofico, all'atelosteogenesi tipo 2 e all'acondrogenesi tipo 1B, con le quali costituisce un continuum clinico."},"nl":{"name":"Multipele epifysaire dysplasie type 4","synonyms":["Autosomaal recessieve multipele epifysaire dysplasie","EDM4","MED4","Polyepifysaire dysplasie type 4","rMED"],"definition":"Multipele epifysaire dysplasie type 4 is een multipele epifysaire dysplasie met aanvang in de late kindertijd die gekarakteriseerd wordt door gewrichtspijn in de heupen, knieën, polsen en vingers met af en toe beperking van de gewrichtsbeweging, misvorming van de handen, voeten en knieën (klompvoet, clinodactylie, brachydactylie), scoliose en licht gereduceerde volwassen lengte. Radiografie toont platte epifysen met vroege artritis van de heup, en een dubbele knieschijf. Multipele epifysaire dysplasie type 4 volgt een autosomaal recessief overervingspatroon. De ziekte is allelisch met diastrofe dwerggroei, atelosteogenese type 2 en achondrogenesie type 1B, waarmee het een klinisch continuüm vormt."},"pt":{"name":"Displasia epifisária múltipla, tipo 4"},"pl":{"name":"Dysplazja wielonasadowa typu 4","synonyms":["Autosomalna recesywna dysplazja wielonasadowa","EDM4","MED4","rMED"]},"cs":{"name":"Mnohočetná epifyzární dysplázie, typ 4","synonyms":["EDM4","MED4","Polyepifyzární dysplázie, typ 4","rMED","Autozomálně recesivní mnohočetná epifyzární dysplázie"]},"uk":{"name":"Множинна епіфізарна дисплазія, тип 4","synonyms":["Аутосомно-рецесивна множинна епіфізарна дисплазія","EDM4","MED4","Поліепіфізарна дисплазія типу 4","rMED"],"definition":"Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum."},"zh":{"name":"多发性骨骺发育不良4型","synonyms":["常染色体显性遗传多发性骨骺发育不良"],"definition":"多发性骨骺发育不良4型是一种多发性骨骺发育不良，在儿童后期起病，特点是髋、膝、腕、指关节疼痛伴偶尔的关节活动受限，手、足、膝畸形（马蹄内翻足、指/趾侧弯畸形、短指/趾）、脊柱侧凸畸形和成人期身高偏低。放射学检查显示骨骺扁平伴早期髋关节关节炎和双层髌骨。多发性骨骺发育不良4型遵循常染色体隐性遗传。该病与畸形性侏儒症、成骨不全2型和软骨发育不全1B型在同一等位基因，形成一组临床症候群。"},"tr":{"name":"Çoklu epifizyal displazi tip 4","synonyms":["EDM4","MED4","rMED","Poliepifizyal displazi tip 4","Otozomal Çekinik çoklu epifizyal displazi"]}},"xrefs":[{"source":"OMIM","code":"226900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.61","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1927114777"},{"source":"MONDO","code":"0009189","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535504","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1847593","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9793","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]},{"orpha":93423,"name":"Sulfation-related bone disorder","classifications":[156]}],"children":[],"genes":[{"symbol":"SLC26A2","name":"solute carrier family 26 member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301483[PMID]","hgnc":"10994","ensembl":"ENSG00000155850","omim":"606718","loci":["5q32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18328978[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-07-16","source":"20301483[PMID]_30423444[PMID]_29024831[PMID]","terms":[{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002654","label":"Multiple epiphyseal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008807","label":"Acetabular dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003365","label":"Arthralgia of the hip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001776","label":"Bilateral talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002812","label":"Coxa vara","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003498","label":"Disproportionate short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031174","label":"Double-layered patella","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002987","label":"Elbow flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003071","label":"Flattened epiphysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030289","label":"Flattened femoral epiphysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008848","label":"Moderately short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003088","label":"Premature osteoarthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009824","label":"Upper limb undergrowth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040072","label":"Abnormal forearm bone morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005922","label":"Abnormal hand morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000363","label":"Abnormality of earlobe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004037","label":"Abnormality of the ulnar epiphyses","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031878","label":"Acromicria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031006","label":"Acroparesthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006429","label":"Broad femoral neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001769","label":"Broad foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002947","label":"Cervical kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009471","label":"Contracture of the proximal interphalangeal joint of the 3rd finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008829","label":"Delayed femoral head ossification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004002","label":"Flattened radial epiphyses","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008434","label":"Hypoplastic cervical vertebrae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003016","label":"Metaphyseal widening","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001440","label":"Metatarsal synostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002986","label":"Radial bowing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008905","label":"Rhizomelia","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:0009381","label":"Short finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010743","label":"Short metatarsal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009778","label":"Short thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001831","label":"Short toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032649","label":"Skewfoot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025264","label":"Stiff ankle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003031","label":"Ulnar bowing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009487","label":"Ulnar deviation of the hand","frequency":"Occasional (29-5%)","criteria":null}]}}