{"orpha":2551,"name":"Microspherophakia-metaphyseal dysplasia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Verloes-Van Maldergem-de Marneffe syndrome"],"definition":"Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2551/","orphanet_url":"https://www.orpha.net/en/disease/detail/2551","names":{"fr":{"name":"Syndrome de microsphérophakie-dysplasie métaphysaire","synonyms":["Syndrome de Verloes-Van Maldergem-de Marneffe"],"definition":"Le syndrome microsphérophakie - dysplasie métaphysaire est un syndrome très rare associant une dysplasie osseuse avec un nanisme micromélique et des anomalies oculaires."},"de":{"name":"Mikrosphärophakie - metaphysäre Dysplasie","definition":"Mikrosphärophakie - metaphysäre Dysplasie ist ein sehr seltenes Syndrom, das Skelettdysplasie mit mikromelem Kleinwuchs und Augendefekten vereint."},"es":{"name":"Síndrome de microesferofaquia-displasia metafisaria","synonyms":["Síndrome de Verloes-Van Maldergem-Marneffe"],"definition":"La microesferofaquia-displasia metafisaria es un síndrome muy raro que asocia displasia ósea con enanismo micromélico y defectos oculares."},"it":{"name":"Microsferofachia - displasia metafisaria","synonyms":["Sindrome di Verloes-Van Maldergem-Marneffe"],"definition":"La microsferofachia - displasia metafisaria è una sindrome molto rara che associa displasia scheletrica, nanismo micromelico e difetti oculari."},"nl":{"name":"Microsferofakie - metafysaire dysplasie-syndroom","synonyms":["Syndroom van Verloes-Van Maldergem-de Marneffe"],"definition":"Microsferofakie - metafysaire dysplasie-syndroom is een zeer zeldzaam syndroom waarbij botdysplasie gepaard gaat met micromelische dwerggroei en oogdefecten."},"pt":{"name":"Síndrome de microsferofaquia-displasia metafisária","synonyms":["Síndrome Verloes-Van Maldergem-Marneffe"],"definition":"A microsferofaquia - displasia metafisária é um síndrome muito raro associado a displasia óssea, nanismo micromélico e defeitos oculares."},"pl":{"name":"Soczewka mała i kulista - dysplazja przynasadowa","synonyms":["Zespół Verloesa, Van Maldergem i de Marneffe"]},"cs":{"name":"Syndrom zahrnující mikrosféroplakii a metafyzární dysplázii","synonyms":["Verloesův-Van Maldergemův-de Marneffeové syndrom","Verloes-Van Maldergem-de Marneffeové syndrom"]},"uk":{"name":"Синдром мікросферофакії-метафізарної дисплазії","synonyms":["Синдром Верлоеса-Ван Мальдергема-де-Марнеффе"],"definition":"Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects."},"zh":{"name":"小球形晶状体-干骺端发育不良综合征","synonyms":["Verloes-Van Maldergem-de Marneffe综合征"]},"tr":{"name":"Mikrosferofaki-metafizer displazi sendromu","synonyms":["Verloes-Van Maldergem-de Marneffe sendromu"]}},"xrefs":[{"source":"OMIM","code":"157151","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007998","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510377","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5481","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":519292,"name":"Syndromic ectopia lentis","classifications":[147,189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]},{"orpha":522554,"name":"Syndromic genetic ectopia lentis","classifications":[156]},{"orpha":519294,"name":"Syndromic microspherophakia","classifications":[147,156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}