{"orpha":556985,"name":"Early-onset calcifying leukoencephalopathy-skeletal dysplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["BANDDOS","Brain abnormalities-neurodegeneration-dysosteosclerosis disease"],"definition":"A rare genetic neurological disorder characterized by pediatric onset of calcifying leukoencephalopathy and skeletal dysplasia. Reported structural brain abnormalities include agenesis of corpus callosum, ventriculomegaly, congenital hydrocephalus, pontocerebellar hypoplasia, periventricular calcifications, Dandy-Walker malformation and absence of microglia. Characteristic skeletal features include increased bone mineral density (reported in skull, pelvic bone and vertebrae), platyspondyly, and under-modeling of tubular bones with widened/radiolucent metaphysis and constricted/sclerotic diaphysis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-556985/","orphanet_url":"https://www.orpha.net/en/disease/detail/556985","names":{"fr":{"name":"Leucoencéphalopathie calcifiante-dysplasie squelettique à début précoce","definition":"Maladie neurologique génétique rare caractérisée par l'apparition pédiatrique d'une leucoencéphalopathie calcifiante et d'une dysplasie squelettique. Les anomalies cérébrales structurelles rapportées sont l'agénésie du corps calleux, la ventriculomégalie, l'hydrocéphalie congénitale, l'hypoplasie pontocérébelleuse, les calcifications périventriculaires, la malformation de Dandy-Walker et l'absence de microglies. Les anomalies du squelette sont une augmentation de la densité minérale osseuse (affectant le crâne, l'os pelvien et les vertèbres), une platyspondylie et une malformation des os tubulaires avec une métaphyse élargie donnant une image radio-clair à l'examen et une diaphyse rétrécie/sclérotique."},"de":{"name":"Früh-einsetzende kalzifizierende Leukenzephalopathie mit Skelettdysplasie","synonyms":["BANDDOS","Gehirnanomalien mit Neurodegeneration und Dysosteosklerose"],"definition":"Eine seltene genetisch bedingte neurologische Störung, die durch eine in der Kindheit auftretende kalzifizierende Leukoenzephalopathie und Skelettdysplasie gekennzeichnet ist. Zu den gemeldeten strukturellen Hirnanomalien gehören Agenesie des Corpus callosum, Ventrikulomegalie, kongenitaler Hydrozephalus, pontozerebelläre Hypoplasie, periventrikuläre Verkalkungen, Dandy-Walker-Malformation und Fehlen von Mikroglia. Zu den charakteristischen Skelettmerkmalen gehören eine erhöhte Knochenmineraldichte (berichtet für Schädel, Beckenknochen und Wirbel), Platyspondylie und eine Untermodellierung der Röhrenknochen mit verbreiterter/radioluzenter Metaphyse und verengter/sklerotischer Diaphyse."},"es":{"name":"Leucoencefalopatía calcificante-displasia esquelética de inicio precoz","synonyms":["BANDDOS","Enfermedad de anomalías cerebrales-neurodegeneración-disosteosclerosis"],"definition":"Es un trastorno neurológico genético poco frecuente caracterizado por la presentación en edad pediátrica de leucoencefalopatía calcificante y displasia esquelética. Las anomalías cerebrales estructurales descritas incluyen agenesia del cuerpo calloso, ventriculomegalia, hidrocefalia congénita, hipoplasia pontocerebelosa, calcificaciones periventriculares, malformación de Dandy-Walker y ausencia de microglia. Los rasgos esqueléticos característicos incluyen un aumento de la densidad mineral ósea (descrito en el cráneo, hueso pélvico y vértebras), platispondilia y modelado deficiente de los huesos tubulares con metáfisis ensanchadas/radiolucente y diáfisis estrechas/escleróticas."},"it":{"name":"Leucoencefalopatia calcificante a esordio precoce-displasia scheletrica","definition":"Si tratta di una malattia neurologica genetica rara, caratterizzata da leucoencefalopatia calcificante ad esordio nell'età pediatrica associata a displasia scheletrica. Le anomalie cerebrali comprendono l'agenesia del corpo calloso, la ventricolomegalia, l'idrocefalo congenito, l'ipoplasia pontocerebellare, le calcificazioni periventricolari, la malformazione di Dandy-Walker e l'aplasia della microglia. Le anomalie scheletriche comprendono l'aumento della densità minerale delle ossa (a livello del cranio, del bacino e delle vertebre), la platispondilia e le anomalie morfologiche delle ossa tubolari che presentano metafisi allargate/radiolucenti e diafisi ristrette/sclerotiche."},"nl":{"name":"Vroeg optredende calcificerende leuko-encefalopathie - skeletdysplasie","synonyms":["BANDDOS","Hersenafwijkingen - neurodegeneratie - dysosteosclerose-ziekte"],"definition":"Een zeldzame, genetische neurologische aandoening, gekarakteriseerd door pediatrische aanvang van calcifiërende leuko-encefalopathie en skeletdysplasie. Structurele hersenanomalieën die werden gerapporteerd, zijn onder meer agenesie van corpus callosum, ventriculomegalie, congenitale hydrocefalie, pontocerebellaire hypoplasie, periventriculaire calcificaties, Dandy-Walker malformatie, en afwezigheid van microglia. Typische kenmerken van skelet zijn onder meer verhoogde botmineraaldichtheid (gerapporteerd in schedel, botten van bekken, en wervels), platyspondylie, en ondermaatse modellering van pijpbeenderen met verbrede/radiolucente metafyse en versmalde/sclerotische diafyse."},"pt":{"name":"Leucoencefalopatia calcificante de início precoce-displasia esquelética","synonyms":["Anomalias cerebrais-neurodegeneração-doença disosteosclerótica","BANDDOS"]},"pl":{"name":"Leukoencefalopatia o wczesnym początku ze zwapnieniami i dysplazją szkieletową","synonyms":["BANDDOS","Brain abnormalities-neurodegeneration-dysosteosclerosis disease"]},"cs":{"name":"Kalcifikující leukoencefalopatie s časným nástupem a kostní dysplázií","synonyms":["BANDDOS","Brain abnormalities-neurodegeneration-dysosteosclerosis disease"]},"uk":{"name":"Рання кальцифікуюча лейкоенцефалопатія-скелетна дисплазія","definition":"A rare genetic neurological disorder characterized by pediatric onset of calcifying leukoencephalopathy and skeletal dysplasia. Reported structural brain abnormalities include agenesis of corpus callosum, ventriculomegaly, congenital hydrocephalus, pontocerebellar hypoplasia, periventricular calcifications, Dandy-Walker malformation and absence of microglia. Characteristic skeletal features include increased bone mineral density (reported in skull, pelvic bone and vertebrae), platyspondyly, and under-modeling of tubular bones with widened/radiolucent metaphysis and constricted/sclerotic diaphysis."},"zh":{"name":"早发性钙化脑白质病-骨骼发育不良","definition":"一种罕见的遗传性神经系统疾病，以小儿发病的钙化性脑白质病和骨骼发育不良为特征。报道的脑结构异常包括胼胝体发育不全、巨脑室、先天性脑积水、脑桥小脑发育不全、脑室周围钙化、Dandy-Walker畸形和小神经胶质细胞缺如。骨骼特征包括骨盐（据报道在颅骨、髋骨和椎骨中）密度增加、扁平椎、管状骨欠定模型的干骺端增宽/放射状，骨干收缩/硬化。"},"tr":{"name":"Erken başlangıçlı kalsifiye lökoensefalopati-iskelet displazisi"}},"xrefs":[{"source":"OMIM","code":"618476","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G93.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0034143","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681333","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":183500,"name":"Genetic neurodegenerative disease","classifications":[156]},{"orpha":68356,"name":"Leukodystrophy","classifications":[156,181]},{"orpha":2781,"name":"Osteopetrosis and related disorders","classifications":[147,156,199,233]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]}],"children":[],"genes":[{"symbol":"CSF1R","name":"colony stimulating factor 1 receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30982608[PMID]_30982609[PMID]","hgnc":"2433","ensembl":"ENSG00000182578","omim":"164770","loci":["5q32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Antenatal","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_30982608[PMID]_30982609[PMID]_28383543[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"30982608[PMID]_30982609[PMID]_28383543[PMID]"}],"phenotypes":null}