{"orpha":156728,"name":"Spondyloepimetaphyseal dysplasia, matrilin-3 type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SEMD, MATN3-related","SEMD, matrilin-3 type"],"definition":"A rare primary bone dysplasia due to matrilin-3 variants and characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-156728/","orphanet_url":"https://www.orpha.net/en/disease/detail/156728","names":{"fr":{"name":"Dysplasie spondylo-épimétaphysaire type matrilin-3","synonyms":["SEMD type MATN3","SEMD type matrilin-3"],"definition":"La dysplasie spondylo-épimétaphysaire (DSEM) type matriline-3 se caractérise par un nanisme disproportionné à début précoce, une incurvation des membres inférieurs, des os longs larges, courts et trapus avec des anomalies épiphysaires et métaphysaires sévères, une lordose lombaire, une hypoplasie des os iliaques, des corps vertébraux ovoïdes et plats et des mains normales."},"de":{"name":"Spondyloepimetaphysäre Dysplasie, MATN3-Gen-assoziierte","definition":"Eine seltene primäre Knochendysplasie, die durch Mutationen im Matrilin-3-Gen (<i>MATN3</i>; 2p24-p23) verursacht wird und gekennzeichnet ist durch frühen, dysproportionierten extremen Kleinwuchs, Verbiegung der unteren Gliedmaßen, verkürzte, verbreiterte, gedrungene Röhrenknochen mit schweren Veränderungen der Metaphysen und Epiphysen, Lendenlordose, hypoplastisches Ilium, flache ovoide Wirbelkörper und normale Hände."},"es":{"name":"Displasia espondiloepimetafisaria tipo matrilina-3","definition":"Es una displasia ósea primaria poco frecuente causada por variaciones en matrilina-3 y que se caracterizada por enanismo desproporcionado de inicio temprano, curvatura de las extremidades inferiores, huesos largos cortos, anchos y robustos con cambios graves a nivel de epífisis y metáfisis, lordosis lumbar, hipoplasia de huesos ilíacos, cuerpos vertebrales ovoides y planos y manos normales."},"it":{"name":"Displasia spondiloepimetafisaria, tipo matrilin-3","synonyms":["SEMD, tipo MATN3","SEMD, tipo matrilin-3"],"definition":"La displasia spondilo-epi-metafisaria, tipo matrilina-3, è caratterizzata da nanismo sproporzionato ad esordio precoce, incurvamento degli arti inferiori, allargamento e ispessimento delle ossa lunghe, con gravi alterazioni epifisarie e metafisarie, lordosi lombare, ossa iliache ipoplasiche, corpi vertebrali ovoidali e piatti e mani normali."},"nl":{"name":"Spondylo-epimetafysaire dysplasie, matriline 3-type","synonyms":["SEMD, MATN3-gerelateerd","SEMD, matriline 3-type"],"definition":"Een zeldzame primaire botdysplasie door varianten van matriline-3, gekenmerkt door vroeg optredende disproportionele dwerggroei, kromstand van onderste ledematen, korte, brede en gedrongen pijpbeenderen met ernstige epifysaire en metafysaire veranderingen, lumbale lordose, hypoplastische darmbeenderen, platte eivormige wervellichamen, en normale handen."},"pt":{"name":"Displasia espondiloepimetafisária, tipo Matrilin","definition":"A displasia espondiloepimetafisária tipo matrilina 3 é caracterizada por nanismo desproporcionado de início precoce, encurvamento dos membros inferiores, ossos longos curtos, largos e atarracados com alterações graves epifisárias e metafisárias, lordose lombar, ossos ilíacos hipoplásicos, corpos vertebrais achatados e ovóides e mãos normais."},"pl":{"name":"Dysplazja kręgowo-nasadowo-przynasadowa, typ matryliny-3","synonyms":["SEMD, typ matryliny-3","SEMD, związana z MATN3"]},"cs":{"name":"Spondyloepimetafyzární dysplázie, typ matrilin-3","synonyms":["MATN3-vázaný SEMD","SEMD, typ matrilin-3"]},"uk":{"name":"Спондилоепіметафізарна дисплазія, тип матриліну-3","synonyms":["SEMD, повязані з MATN3","SEMD, тип матриліну-3"],"definition":"A rare primary bone dysplasia due to matrilin-3 varaints and characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands."},"zh":{"name":"Matrlin-3型脊柱干骺端发育不良","synonyms":["SEMD MATRILIN-3型"],"definition":"matrilin-3型脊椎干骺端发育不良，其特征是不成比例的早发型侏儒症，下肢弯曲，长骨短、宽、粗，伴骨骺和干骺端严重改变，腰椎前凸，髂骨发育不全，扁平卵形椎体，手部正常。"},"tr":{"name":"Spondiloepimetafizyal displazi, matrilin-3 tipi","synonyms":["SEMD, MATN3-ilişkili","SEMD, matrilin-3 tipi"]}},"xrefs":[{"source":"OMIM","code":"608728","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1983063881"},{"source":"MONDO","code":"0012108","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563869","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1837481","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10611","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"MATN3","name":"matrilin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15121775[PMID]","hgnc":"6909","ensembl":"ENSG00000132031","omim":"602109","loci":["2p24.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"15121775[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15121775[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-05-18","source":"15121775[PMID]","terms":[{"hpo":"HP:0002979","label":"Bowing of the legs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009826","label":"Limb undergrowth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008873","label":"Disproportionate short-limb short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001377","label":"Limited elbow extension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002938","label":"Lumbar hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003037","label":"Enlarged joints","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005257","label":"Thoracic hypoplasia","frequency":"Occasional (29-5%)","criteria":null}]}}