{"orpha":402364,"name":"Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-402364/","orphanet_url":"https://www.orpha.net/en/disease/detail/402364","names":{"fr":{"name":"Atrophie cérébrale et cérébelleuse infantile avec microcéphalie postnatale progressive","definition":"Syndrome rare avec malformation du système nerveux central caractérisé par une microcéphalie progressive accompagnée d'un retard moteur profond et d'une déficience intellectuelle, associés à une hypertonie, une spasticité, un clonus et des crises d'épilepsie. Une atrophie cérébrale et cérébelleuse sévère et une myélinisation médiocre sont mises en évidence à l'imagerie cérébrale."},"de":{"name":"Infantile zerebrale und zerebelläre Atrophie mit postnataler progressiver Mikrozephalie"},"es":{"name":"Atrofia cerebral y cerebelosa infantil con microcefalia postnatal progresiva","definition":"Es un síndrome poco frecuente de malformación del sistema nervioso central. Está caracterizado por microcefalia progresiva con retraso motor muy grave y discapacidad intelectual, junto con hipertonía, espasticidad, clonus y crisis epilépticas. Las imágenes radiológicas muestran una intensa atrofia cerebral y cerebelosa, así como escasa mielinización."},"it":{"name":"Atrofia cerebro-cerebellare infantile con microcefalia postnatale progressiva","definition":"L'atrofia cerebro-cerebellare infantile con microcefalia postnatale progressiva è una malformazione rara del sistema nervoso centrale, caratterizzata da microcefalia progressiva con ritardo motorio e disabilità intellettiva molto gravi, associati ad ipertonia, spasticità, clonie e crisi epilettiche. Le neuroimmagini evidenziano atrofia cerebrale e cerebellare grave e scarsa mielinizzazione."},"nl":{"name":"Infantiele cerebrale en cerebellaire atrofie met postnatale progressieve microcefalie","definition":"Infantiele cerebrale en cerebellaire atrofie met postnatale progressieve microcefalie is een zeldzaam malformatiesyndroom van het centrale zenuwstelsel, en wordt gekarakteriseerd door progressieve microcefalie met diepe motorische en intellectuele achterstand, geassocieerd met hypertonie, spasticiteit, clonus en insulten, en beeldvorming van de hersenen toont ernstige cerebrale en cerebellaire atrofie, alsook ondermaatse myelinisatie."},"pt":{"name":"Atrofia cerebral e cerebelosa da infância com microcefalia pós-natal progressiva"},"pl":{"name":"Dziecięcy zanik mózgu i móżdżku z postnatalną postępującą mikrocefalią","definition":"*Dziecięcy zanik mózgu i móżdżku z postnatalną postępującą mikrocefalią jest rzadkim zespołem wad rozwojowych ośrodkowego układu nerwowego, który charakteryzuje się postępującym małogłowiem z głębokim opóźnieniem ruchowym i niepełnosprawnością intelektualną, którym towarzyszy wzmożone napięcie mięśniowe, spastyczność, klonus i drgawki, a w badaniach obrazowych mózgu widoczny jest ciężki zanik mózgu i móżdżku oraz uboga mielinizacja."},"cs":{"name":"Infantilní cerebrální a cerebelární atrofie s postnatální progresivní mikrocefalií"},"uk":{"name":"Дитяча церебральна та мозочкова атрофія з постнатальною прогресуючою мікроцефалією","definition":"Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination."},"zh":{"name":"小儿脑和小脑萎缩伴产后进行性小头畸形","definition":"婴儿大脑和小脑萎缩伴生后进行性小头畸形是一种罕见的中枢神经系统畸形综合征，其特征是进行性小头畸形具有严重的运动延迟和智力障碍，伴有肌张力高，痉挛，阵挛和癫痫发作，脑影像学检查显示严重的脑小脑萎缩，并且髓鞘发育不良。"},"tr":{"name":"Doğum sonrası ilerleyici mikrosefali ile seyreden infantil serebral ve serebellar atrofi"}},"xrefs":[{"source":"OMIM","code":"613668","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013351","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749432","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10995","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":269528,"name":"Syndrome with microcephaly as a major feature","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"MED17","name":"mediator complex subunit 17","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20950787[PMID]","hgnc":"2375","ensembl":"ENSG00000042429","omim":"603810","loci":["11q21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"20950787[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20950787[PMID]"}],"phenotypes":null}