{"orpha":799,"name":"Schizencephaly","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare developmental defect during embryogenesis characterized by the presence of linear clefts containing cerebrospinal fluid lined by abnormal grey matter that extend from the lateral ventricles to the pial surface of the cortex. Schizencephaly can involve one or both cerebral hemispheres and may lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-799/","orphanet_url":"https://www.orpha.net/en/disease/detail/799","names":{"fr":{"name":"Schizencéphalie","definition":"Anomalie rare du développement embryonnaire caractérisée par la présence de fentes linéaires contenant du liquide céphalo-rachidien et bordées de substance grise dysplasique, qui s'étendent du ventricule latéral à la surface externe du cortex. La schizencéphalie peut affecter l'un ou les deux hémisphères cérébraux et entraîner divers symptômes neurologiques tels que l'épilepsie, des déficits moteurs et un retard psychomoteur."},"de":{"name":"Schizenzephalie","definition":"Eine seltene Entwicklungsstörung während der Embryogenese, die durch das Vorhandensein linearer, Liquor enthaltender und mit abnormer grauer Substanz ausgekleideter Spalten gekennzeichnet ist, die sich von den Seitenventrikeln bis zur pialen Oberfläche des Kortex erstrecken. Die Schizenzephalie kann eine oder beide Hemisphären betreffen und zu einer Reihe neurologischer Symptome wie Epilepsie, motorische Defizite und psychomotorische Retardierung führen."},"es":{"name":"Esquizencefalia","definition":"Es un defecto poco frecuente del desarrollo durante la embriogénesis caracterizado por la presencia de hendiduras lineales que contienen líquido cefalorraquídeo, revestidas por sustancia gris anómala que se extiende desde los ventrículos laterales hasta la superficie pial de la corteza. La esquizencefalia puede afectar a uno o ambos hemisferios cerebrales y puede conducir a una variedad de síntomas neurológicos como epilepsia, déficits motores y retraso psicomotor."},"it":{"name":"Schizencefalia","definition":"La schizencefalia è un difetto raro dello sviluppo dell'embrione, caratterizzato da schisi lineari contenenti liquido cerebrospinale rivestite da sostanza grigia anomala, che si estendono dai ventricoli laterali fino alla superficie piale della corteccia. La malattia può interessare uno o entrambi gli emisferi cerebrali e può associarsi a vari sintomi neurologici, che comprendono l'epilessia, i deficit motori e il ritardo psicomotorio."},"nl":{"name":"Schizencefalie","definition":"Een zeldzaam ontwikkelingsdefect tijdens de embryogenese, gekarakteriseerd door de aanwezigheid van lineaire spleten die cerebrospinaal vocht bevatten, bekleed zijn met abnormale grijze stof, en zich uitstrekken van de laterale ventrikels tot het oppervlak van het zachte hersenvlies (pia mater) van de hersenschors. Schizencefalie kan één of beide cerebrale hemisferen treffen en kan leiden tot diverse neurologische symptomen zoals epilepsie, motorische beperkingen, en psychomotorische achterstand."},"pt":{"name":"Esquizencefalia"},"pl":{"name":"Schizencefalia"},"cs":{"name":"Schizencefalie"},"uk":{"name":"Шизенцефалія","definition":"A rare developmental defect during embryogenesis characterized by the presence of linear clefts containing cerebrospinal fluid lined by abnormal grey matter that extend from the lateral ventricles to the pial surface of the cortex. Schizencephaly can involve one or both cerebral hemispheres and may lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation."},"zh":{"name":"脑裂性孔洞脑"},"tr":{"name":"şizensefali"}},"xrefs":[{"source":"OMIM","code":"269160","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.6","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LA05.61","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1693546163"},{"source":"MONDO","code":"0010011","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D065707","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0266484","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"166","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10073487","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":166478,"name":"Cerebral malformation with epilepsy","classifications":[156,181]},{"orpha":269190,"name":"Encephaloclastic disorder","classifications":[147,156,181]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]}],"children":[{"orpha":485275,"name":"Acquired schizencephaly","type":"Etiological subtype"},{"orpha":481986,"name":"Familial schizencephaly","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"COL4A1","name":"collagen type IV alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23225343[PMID]_25500781[PMID]_26576802[PMID]","hgnc":"2202","ensembl":"ENSG00000187498","omim":"120130","loci":["13q34"],"via":{"orpha":481986,"name":"Familial schizencephaly"}},{"symbol":"EMX2","name":"empty spiracles homeobox 2","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"8528262[PMID]_9153481[PMID]_9359037[PMID]_17506092[PMID]_17506092[PMID]","hgnc":"3341","ensembl":"ENSG00000170370","omim":"600035","loci":["10q26.11"],"via":{"orpha":485275,"name":"Acquired schizencephaly"}},{"symbol":"SHH","name":"sonic hedgehog signaling molecule","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"19533790[PMID]_20157829[PMID]","hgnc":"10848","ensembl":"ENSG00000164690","omim":"600725","loci":["7q36.3"],"via":{"orpha":485275,"name":"Acquired schizencephaly"}},{"symbol":"SIX3","name":"SIX homeobox 3","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"20157829[PMID]","hgnc":"10889","ensembl":"ENSG00000138083","omim":"603714","loci":["2p21"],"via":{"orpha":485275,"name":"Acquired schizencephaly"}}],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.48,"area":"United Kingdom","status":"Validated","source":"21647999[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.54,"area":"United States","status":"Validated","source":"16059942[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Japan","status":"Validated","source":"26545857[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002132","label":"Porencephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002510","label":"Spastic tetraplegia","frequency":"Frequent (79-30%)","criteria":null}]}}