{"orpha":65683,"name":"Isolated focal cortical dysplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Epilepsy due to FCD"],"definition":"Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or grey matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-65683/","orphanet_url":"https://www.orpha.net/en/disease/detail/65683","names":{"fr":{"name":"Dysplasie corticale focale isolée","synonyms":["Epilepsie due à FCD"],"definition":"Malformation cérébrale non syndromique rare, d'origine génétique, due à un trouble de la migration neuronale caractérisé par des malformations focales de taille variable affectant toute partie du cortex cérébral. Elle se manifeste par une épilepsie pharmacorésistante (entraînant généralement une déficience intellectuelle) et par des troubles du comportement. Les anomalies visibles à l'IRM (anomalies du signal de la substance blanche et/ou grise, jonction floue entre la substance grise et la substance blanche, perte de volume localisée, épaississement cortical, schéma anormal des gyri, hippocampe anormal) et les schémas histopathologiques variables sont associés."},"de":{"name":"Kortikale Dysplasie, isolierte fokale","synonyms":["Epilepsie durch FCD"],"definition":"Die isolierte fokale kortikale Dysplasie ist eine seltene, genetisch bedingte, nicht-syndromale zerebrale Fehlbildung, die auf einer abnormalen neuronalen Migration beruht. Sie ist gekennzeichnet durch unterschiedlich große, fokalisierte Fehlbildungen in einem beliebigen Teil der Großhirnrinde, die sich mit medikamentenresistenter Epilepsie (die in der Regel zu Intelligenzminderung führt) und Verhaltensstörungen manifestiert. Die MRT zeigt einige Anomalien (z. B. abnormes Signal der weißen und/oder grauen Substanz, unscharfer Übergang zwischen grauer und weißer Substanz, lokalisierter Volumenverlust, kortikale Verdickung, abnormes gyrales Muster, abnormer Hippocampus) und das histologische Bild ist variabel."},"es":{"name":"Displasia cortical focal aislada","synonyms":["Epilepsia causada por DCF"],"definition":"Es una malformación cerebral no sindrómica, genética poco frecuente, debida a un trastorno de migración neuronal. Se caracteriza por malformaciones focales de tamaño variable en cualquier área de la corteza cerebral. Se manifiesta con una epilepsia fármaco-resistente (que, por lo general, conduce a discapacidad intelectual) y trastornos de conducta. Asocia alteraciones en la RM (p. ej., alteración de señal de sustancia blanca y/o gris, borramiento de la unión sustancia gris-blanca, pérdida focal de volumen, engrosamiento cortical, alteración del patrón giral e hipocampo anómalo) y patrones histopatológicos variables."},"it":{"name":"Displasia corticale focale isolata","synonyms":["Epilessia da FCD"],"definition":"La displasia corticale focale isolata è una malformazione cerebrale rara non sindromica, di origine genetica, causata da anomalie della migrazione neuronale che esitano in malformazioni focalizzate di grandezza variabile, localizzate in qualsiasi area della corteccia cerebrale. La malattia esordisce con epilessia farmaco-resistente (che di solito esita nella disabilità intellettiva) e disturbi comportamentali. La RMN evidenzia alcune anomalie (anomalie di segnale della sostanza bianca e/o grigia, scarsa definizione della giunzione sostanza grigia/bianca, aree di ridotto volume, ispessimento corticale, anomalie delle circonvoluzioni e dell'ippocampo). Il quadro istologico è variabile."},"nl":{"name":"Geïsoleerde focale corticale dysplasie","synonyms":["Epilepsie door FCD"],"definition":"Geïsoleerde focale corticale dysplasie is een zeldzame, genetische, niet-syndromale cerebrale malformatie als gevolg van abnormale neuronale migratie, die wordt gekarakteriseerd door gefocaliseerde malformaties met variabele omvang gesitueerd in een of ander deel of delen van de hersenschors, en die zich manifesteert met medicatieresistente epilepsie (die meestal leidt tot intellectuele achterstand) en gedragsstoornissen. Abnormale MRI-bevindingen (e.g. abnormale signalen van witte en/of grijze stof, troebele overgang tussen grijze en witte stof, gelokaliseerd volumeverlies, corticale verdikking, abnormaal gyraal patroon, abnormale hippocampus) en variabele histopathologische patronen zijn ook geassocieerd."},"pt":{"name":"Displasia cortical focal","synonyms":["Epilepsia por DCF"]},"pl":{"name":"Izolowana ogniskowa dysplazja korowa","synonyms":["Dysplazja korowa, typu Taylora","Padaczka spowodowana FCD"]},"cs":{"name":"Izolovaná fokální kortikální dysplázie","synonyms":["Epilepsie způsobená FCD"]},"uk":{"name":"Ізольована фокальна кортикальна дисплазія","synonyms":["Епілепсія внаслідок ФКУ"],"definition":"Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or grey matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated."},"zh":{"name":"孤立型局灶性皮质发育不良","synonyms":["FCD所致癫痫"]},"tr":{"name":"İzole fokal kortikal displazi","synonyms":["FCD'ye bağlı epilepsi"]}},"xrefs":[{"source":"OMIM","code":"607341","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA05.51","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1556086233"},{"source":"MONDO","code":"0019009","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707795","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":268950,"name":"Cerebral cortical dysplasia","classifications":[147,156,181]}],"children":[{"orpha":268961,"name":"Isolated focal cortical dysplasia type I","type":"Clinical subtype"},{"orpha":268994,"name":"Isolated focal cortical dysplasia type II","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24649472[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-01-21","source":"15642904[PMID]_28025990[PMID]_27864929[PMID]_31835056[PMID]","terms":[{"hpo":"HP:0012757","label":"Abnormal neuron morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002361","label":"Psychomotor deterioration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002536","label":"Abnormal cortical gyration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002384","label":"Focal impaired awareness seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030890","label":"Hyperintensity of cerebral white matter on MRI","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031951","label":"Nocturnal seizures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006891","label":"Thick cerebral cortex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007334","label":"Bilateral tonic-clonic seizure with focal onset","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011097","label":"Epileptic spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002197","label":"Generalized-onset seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012469","label":"Infantile spasms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025170","label":"Neuronal/glioneuronal neoplasm of the central nervous system","frequency":"Occasional (29-5%)","criteria":null}]}}