{"orpha":500548,"name":"Osteosclerotic metaphyseal dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare primary bone dysplasia characterized by osteosclerosis localized predominantly to the metaphyses and epiphyseal margins of the appendicular bones and metaphyseal equivalents of the axial bones, as well as the vertebral endplates, costal ends, and margins of the flat bones. The skull is usually unaffected. The condition is associated with developmental delay and hypotonia. Seizures and spastic paraplegia have also been reported. Serum alkaline phosphatase and urinary pyridinoline and deoxypyridinoline levels may be elevated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-500548/","orphanet_url":"https://www.orpha.net/en/disease/detail/500548","names":{"fr":{"name":"Dysplasie métaphysaire ostéosclérotique","definition":"Dysplasie osseuse primaire caractérisée par une ostéosclérose localisée principalement sur les métaphyses et les bords épiphysaires des os du squelette appendiculaire et les équivalents métaphysaires des os axiaux, ainsi que sur les plateaux vertébraux, les extrémités costales et les bords des os plats. Le crâne n'est généralement pas affecté. La maladie est associée à un retard de développement et à une hypotonie. Des crises convulsives et une paraplégie spastique ont également été rapportées. La phosphatase alcaline sérique et les taux urinaires de pyridinoline et de désoxypyridinoline peuvent être élevés."},"de":{"name":"Dysplasie, osteosklerotische metaphysäre","definition":"Eine seltene primäre Knochendysplasie, die durch Osteosklerose gekennzeichnet ist, die vorwiegend an den Metaphysen und Epiphysenrändern der appendikulären Knochen und den metaphysären Äquivalenten der axialen Knochen sowie an den Wirbelendplatten, Rippenenden und Rändern der flachen Knochen lokalisiert ist. Der Schädel ist in der Regel nicht betroffen. Die Erkrankung geht mit einer Entwicklungsverzögerung und Hypotonie einher. Es wurde auch über Krampfanfälle und spastische Paraplegie berichtet. Die alkalische Phosphatase im Serum und die Pyridinolin- und Deoxypyridinolinwerte im Urin können erhöht sein."},"es":{"name":"Displasia metafisaria osteoesclerótica","definition":"Es una displasia ósea primaria poco frecuente caracterizada por osteosclerosis localizada predominantemente en las metáfisis y márgenes epifisarios de los huesos apendiculares y equivalentes metafisarios de los huesos axiales, así como en las placas terminales vertebrales, extremos costales y márgenes de los huesos planos. Por lo general, el cráneo no se ve afectado. La entidad se asocia con retraso del desarrollo e hipotonía. También se ha descrito crisis y paraparesia espástica. Los niveles de fosfatasa alcalina sérica y de piridinolina y desoxipiridinolina en orina pueden estar elevados."},"it":{"name":"Displasia metafisaria osteosclerotica","definition":"Si tratta di una displasia scheletrica primitiva rara, caratterizzata da osteosclerosi che interessa per lo più le metafisi e i margini delle epifisi della regione appendicolare dello scheletro, le metafisi delle ossa assiali, i piatti vertebrali, le estremità delle coste e i margini delle ossa piatte. Di solito il cranio è risparmiato. La malattia si associa ad un ritardo dello sviluppo e all'ipotonia. I pazienti possono presentare anche crisi epilettiche e paraplegia spastica. I livelli di fosfatasi alcalina nel siero e di piridinolina e desossipiridinolina nelle urine possono essere elevati."},"nl":{"name":"Osteosclerotische metafysaire dysplasie","definition":"Een zeldzame primaire botdysplasie, gekarakteriseerd door osteosclerose, hoofdzakelijk gesitueerd in randen van metafyses en epifyses van appendiculaire botten en metafysaire equivalenten van axiale botten, alsook in vertebrale eindplaten, uiteinden van ribben, en randen van platte beenderen. De schedel wordt doorgaans niet aangetast. De aandoening is geassocieerd met ontwikkelingsachterstand en hypotonie. Insulten en spastische paraplegie werden ook reeds gerapporteerd. Gehaltes van alkalische fosfatase in serum en pyridinoline en deoxypyridinoline in urine kunnen verhoogd zijn."},"pt":{"name":"Displasia metafisária osteosclerótica"},"pl":{"name":"Dysplazja przynasadowa osteosklerotyczna"},"cs":{"name":"Osteosklerotická metafyzární dysplázie"},"uk":{"name":"Остеосклеротична метафізарна дисплазія","definition":"A rare primary bone dysplasia characterized by osteosclerosis localized predominantly to the metaphyses and epiphyseal margins of the appendicular bones and metaphyseal equivalents of the axial bones, as well as the vertebral endplates, costal ends, and margins of the flat bones. The skull is usually unaffected. The condition is associated with developmental delay and hypotonia. Seizures and spastic paraplegia have also been reported. Serum alkaline phosphatase and urinary pyridinoline and deoxypyridinoline levels may be elevated."},"zh":{"name":"骨硬化性骨骺端发育不良"},"tr":{"name":"Osteosklerotik metafizer displazi"}},"xrefs":[{"source":"OMIM","code":"615198","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014080","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3554665","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":2781,"name":"Osteopetrosis and related disorders","classifications":[147,156,199,233]}],"children":[],"genes":[{"symbol":"LRRK1","name":"leucine rich repeat kinase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27829680[PMID]","hgnc":"18608","ensembl":"ENSG00000154237","omim":"610986","loci":["15q26.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"27829680[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27829680[PMID]"}],"phenotypes":null}