{"orpha":1040,"name":"Metaphyseal anadysplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Maroteaux-Verloes-Stanescu syndrome","Regressive metaphyseal dysplasia"],"definition":"A rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1040/","orphanet_url":"https://www.orpha.net/en/disease/detail/1040","names":{"fr":{"name":"Anadysplasie métaphysaire","synonyms":["Dysplasie métaphysaire régressive","Syndrome de Maroteaux-Verloes-Stanescu"],"definition":"Forme rare de dysplasie métaphysaire caractérisée par une petite taille, une micromélie avec raccourcissement rhizomélique et une légère déformation en varus des membres inférieurs se manifestant dès les premiers mois de la vie, associée à des lésions métaphysaires sévères mises en évidence par radiographie (irrégularités, élargissement et contours flous) des os longs, surtout des extrémités proximales des fémurs, et à une ostéopénie généralisée, qui disparaît généralement spontanément à l'âge de 3&nbsp;ans. Une variabilité phénotypique a été observée, avec des formes autosomiques dominantes sévères et des formes récessives plus modérées."},"de":{"name":"Anadysplasie, metaphysäre","synonyms":["Maroteaux-Verloes-Stanescu-Syndrom"],"definition":"Die Metaphysäre Anadysplasie ist eine sehr seltene Form der metaphysären Dysplasie, die sich durch Kleinwuchs, rhizomele Mikromelie und eine leichte Varusdeformität der Beine schon in den den ersten Lebensmonaten auszeichnet. Radiologische Zeichen sind: schwere metaphysäre Veränderungen (Unregelmäßigkeiten, Verbreiterung und marginale Unschärfe) in den langen Knochen, vor allem der proximalen Oberschenkel und eine generalisierte Osteopenie. Es wurden schwere autosomal-dominante und mildere rezessive Varianten beobachtet. Ab einem Alter von etwa drei Jahren bilden sich die Unregelmäßigkeiten der Metaphysen normalerweise spontan zurück."},"es":{"name":"Anadisplasia metafisaria","synonyms":["Displasia metafisaria regresiva","Síndrome de Maroteaux-Verloes-Stanescu"],"definition":"Es una forma poco frecuente de displasia metafisaria caracterizada por talla baja, acortamiento rizomiélico de extremidades y una leve deformidad en varo de las piernas que se hace evidente desde los primeros meses de vida, y que está asociada con características radiológicas que incluyen cambios metafisarios graves (irregularidades, ensanchamiento y degeneración marginal) de los huesos largos, más prominente en los extremos proximales del fémur, y osteopenia generalizada, y que por lo general se resuelve espontáneamente antes de los tres años de edad. Se han descrito variantes autosómicas dominantes graves y recesivas leves."},"it":{"name":"Anadisplasia metafisaria","synonyms":["Displasia metafisaria regressiva","Sindrome di Maroteaux-Verloes-Stanescu"],"definition":"L'anadisplasia metafisaria è una forma molto rara di displasia metafisaria. E' caratterizzata da bassa statura, micromelia rizomelica e lieve varismo delle gambe, evidente fin dai primi mesi di vita, associati ad alterazioni gravi delle metafisi (irregolari, allargate, a margini male definiti) delle ossa lunghe, più evidenti nella porzione prossimale del femore, ed osteopenia diffusa, che di solito si risolve spontaneamente prima dei tre anni di vita. Sono state descritte varianti gravi autosomiche dominanti e varianti più lievi ad eredità recessiva."},"nl":{"name":"Metafysaire anadysplasie","synonyms":["Regressieve metafysaire dysplasie","Syndroom van Maroteaux-Verloes-Stanescu"],"definition":"Een zeldzame vorm van metafysaire dysplasie, gekarakteriseerd door kleine gestalte, rhizomele micromelie en een milde varusmisvorming van de benen zichtbaar vanaf de eerste levensmaanden, geassocieerd met radiologische kenmerken van ernstige metafysaire veranderingen (afwijkingen, verbreding en vervaging van grenzen) in pijpbeenderen, het meest opvallend in proximale dijbeenderen, en met gegeneraliseerde osteopenie, en meestal spontaan verdwenen tegen de leeftijd van drie jaar. Er werden reeds ernstige autosomaal dominante en mildere recessieve varianten waargenomen."},"pt":{"name":"Anadisplasia metafisária"},"pl":{"name":"Anadysplazja przynasadowa","synonyms":["Dysplazja przynasadowa regresywna","Zespół Maroteaux, Verloesa i Stanescu"],"definition":"Anadysplazja przynasadowa jest bardzo rzadką formą przynasadowych dysplazji, charakteryzującą się niskim wzrostem, mikromelią rizomeliczną oraz umiarkowaną szpotawością nóg, występującą od pierwszych miesięcy życia, która związana jest z poważnymi zmianami przynasadowymi widocznymi w badaniu radiologicznym (nieregularność, poszerzenie i zacienienie obrysów) kości długich, najbardziej wyraźnymi w proksymalnych częściach kości udowych, a także uogólnioną osteopenią, która zazwyczaj spontanicznie ustępuje do trzeciego roku życia. Zaobserwowano zmienność fenotypową - ciężkie postaci autosomalnie dominujące oraz łagodniejsze recesywne."},"cs":{"name":"Metafyzární anadysplázie","synonyms":["Regresivní metafyzární dysplázie","Maroteauxův-Verloesův-Stanescův syndrom","Maroteaux-Verloes-Stanescův syndrom"]},"uk":{"name":"Метафізарна анадисплазія","synonyms":["Синдром Марото-Верлоеса-Станеску","Регресивна метафізарна дисплазія"],"definition":"A rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed."},"zh":{"name":"干骺端发育不良","synonyms":["Maroteaux-Verloes-Stanescu综合征"]},"tr":{"name":"Metafizeal anadisplazi","synonyms":["Gerileyen metafizyal displazi","Maroteaux-Verloes-Stanescu sendromu"]}},"xrefs":[{"source":"OMIM","code":"602111","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613073","qualifier":"BTNT","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":"327336919"},{"source":"MONDO","code":"0015177","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537351","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432226","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3562","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) (gain of function) in","status":"Assessed","source":"19615667[PMID]_24781753[PMID]","hgnc":"7159","ensembl":"ENSG00000137745","omim":"600108","loci":["11q22.2"]},{"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":"19615667[PMID]_24781753[PMID]","hgnc":"7159","ensembl":"ENSG00000137745","omim":"600108","loci":["11q22.2"]},{"symbol":"MMP9","name":"matrix metallopeptidase 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19615667[PMID]","hgnc":"7176","ensembl":"ENSG00000100985","omim":"120361","loci":["20q13.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":27.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"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:0040071","label":"Abnormal morphology of ulna","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002814","label":"Abnormality of the lower limb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004039","label":"Abnormality of ulnar metaphysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","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:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null}]}}