{"orpha":171703,"name":"Microcephaly-polymicrogyria-corpus callosum agenesis syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-171703/","orphanet_url":"https://www.orpha.net/en/disease/detail/171703","names":{"fr":{"name":"Syndrome de microcéphalie-polymicrogyrie-agénésie du corps calleux","definition":"Syndrome rare avec malformation du système nerveux central d'origine génétique caractérisé par une microcéphalie prénatale marquée, un retard moteur sévère avec hypotonie, une polymicrogyrie bilatérale, une agénésie du corps calleux, une dilatation des ventricules, un petit cervelet et une létalité précoce."},"de":{"name":"Microzephalie - Polymikrogyrie - Corpus callosum-Agenesie"},"es":{"name":"Síndrome de microcefalia-polimicrogiria-agenesia del cuerpo calloso","definition":"Es un síndrome malformativo del sistema nervioso central, genético y poco frecuente, caracterizado por marcada microcefalia de inicio prenatal, retraso motor grave con hipotonía, polimicrogiria bilateral, agenesia del cuerpo calloso, dilatación ventricular, cerebelo pequeño y mortalidad prematura."},"it":{"name":"Sindrome microcefalia, polimicrogiria e agenesia del corpo calloso","definition":"La sindrome che associa la microcefalia, la polimicrogiria e l'agenesia del corpo calloso è una malformazione genetica rara del sistema nervoso centrale, caratterizzata da microcefalia marcata ad esordio prenatale, grave ritardo motorio con ipotonia, polimicrogiria bilaterale, agenesia del corpo calloso, dilatazione dei ventricoli, riduzione del volume del cervelletto e morte prematura."},"nl":{"name":"Microcefalie - polymicrogyrie - agenesie van corpus callosum-syndroom","definition":"Microcefalie - polymicrogyrie - agenesie van het corpus callosum-syndroom is een zeldzaam, genetisch malformatiesyndroom van het centrale zenuwstelsel, en wordt gekarakteriseerd door duidelijke prenataal aanvangende microcefalie, ernstige motorische achterstand met hypotonie, bilaterale polymicrogyrie, agenesie van het corpus callosum, ventrikeldilatatie, klein cerebellum en vroege letaliteit."},"pt":{"name":"Microcefalia - polimicrogiria - agenesia do corpo caloso"},"pl":{"name":"Małogłowie - wielozakrętowość - agnezja ciała modzelowatego","definition":"*Małogłowie - wielozakrętowość - agnezja ciała modzelowatego jest rzadkim, genetycznie uwarunkowanym zespołem wad rozwojowych ośrodkowego układu nerwowego, który charakteryzuje się wyraźnym małogłowiem pojawiającym się w okresie prenatalnym, ciężkim opóźnieniem ruchowym z hipotonią, obustronną drobnozakrętowością, agenezją ciała modzelowatego, poszerzeniem komór mózgowych, małym móżdżkiem i wczesną śmiertelnością."},"cs":{"name":"Syndrom zahrnující mikrocefalii, polymikrogyrii a agenezi corpus callosum"},"uk":{"name":"Синдром мікроцефалії-полімікрогірії-агенезії мозолистого тіла","definition":"Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality."},"zh":{"name":"小头畸形-多小脑回畸形-胼胝体发育不全综合征","definition":"小头畸形-多小脑回畸形-胼胝体发育不良综合征是一种罕见的遗传性中枢神经系统畸形综合征，其主要临床表现为胎儿小头畸形、重度运动迟缓伴肌张力低下、双侧多小脑回畸形、胼胝体发育不良、心室扩张、小脑畸形和早期夭折。"},"tr":{"name":"Mikrosefali-polimikrogyria-korpus kallozum agenezisi sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015745","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750772","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":269573,"name":"Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":199639,"name":"Syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[147,181]}],"children":[],"genes":[{"symbol":"EOMES","name":"eomesodermin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17353897[PMID]","hgnc":"3372","ensembl":"ENSG00000163508","omim":"604615","loci":["3p24.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"17353897[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17353897[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-09-13","source":"17353897[PMID]","terms":[{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011451","label":"Primary microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null}]}}