{"orpha":2798,"name":"Pachygyria-intellectual disability-epilepsy syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Kuzniecky syndrome"],"definition":"A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2798/","orphanet_url":"https://www.orpha.net/en/disease/detail/2798","names":{"fr":{"name":"Syndrome de pachygyrie-déficience intellectuelle-épilepsie","synonyms":["Syndrome de Kuzniecky"],"definition":"Le syndrome de pachygyrie-déficience intellectuelle-épilepsie est un trouble génétique neurologique rare caractérisé par la présence d'une pachygyrie diffuse et de kystes arachnoïdiens, un retard de développement psychomoteur et un déficit intellectuel. Des convulsions (absence, atoniques et toniques-cloniques généralisées) ont aussi été associées, et parfois des céphalées."},"de":{"name":"Pachygyrie-Intelligenzminderung-Epilepsie-Syndrom","synonyms":["Kuzniecky-Syndrom"],"definition":"Eine seltene, genetisch bedingte neurologische Störung, die durch das Vorhandensein von diffuser Pachygyrie und arachnoiden Zysten, psychomotorischer Entwicklungsverzögerung und Intelligenzminderung gekennzeichnet ist. Krampfanfälle (abwesend, atonisch und generalisiert tonisch-klonisch) und gelegentlich auch Kopfschmerzen sind ebenfalls assoziiert."},"es":{"name":"Síndrome de paquigiria-discapacidad intelectual-epilepsia","synonyms":["Síndrome de Kuzniecky"],"definition":"Es un trastorno neurológico genético poco frecuente caracterizado por la presencia de paquigiria difusa y quistes aracnoideos, retraso del desarrollo psicomotor y discapacidad intelectual. También se asocian crisis (que pueden ser de ausencias, atónicas y tónico-clónicas generalizadas) y, en ocasiones, cefalea."},"it":{"name":"Sindrome pachigiria-disabilità intellettiva-epilessia","synonyms":["Sindrome di Kuzniecky"],"definition":"La pachigiria - disabilità intellettiva - epilessia è una malattia neurologica genetica rara, caratterizzata da pachigiria e cisti aracnoidee diffuse, ritardo psicomotorio e dello sviluppo e disabilità intellettiva, associati a crisi epilettiche (di assenza, atoniche e tonico-cloniche generalizzate) e, raramente, a cefalea."},"nl":{"name":"Pachygyrie - intellectuele achterstand - epilepsie-syndroom","synonyms":["Syndroom van Kuzniecky"],"definition":"Een zeldzame, genetische neurologische aandoening gekarakteriseerd door de aanwezigheid van diffuse pachygyrie en arachnoïdale cysten, psychomotorische ontwikkelingsachterstand en intellectuele achterstand. Insulten (absence, atonisch en gegeneraliseerd tonisch-clonisch) en soms hoofdpijn zijn ook geassocieerd."},"pt":{"name":"Síndrome de paquigiria-perturbação do desenvolvimento intelectual-epilepsia","synonyms":["Síndrome Kuzniecky"]},"pl":{"name":"Szerokozakrętowość - niepełnosprawność intelektualna - padaczka","synonyms":["Zespół Kuzniecky'ego"]},"cs":{"name":"Syndrom zahrnující pachygyrii, mentální retardaci a epilepsii","synonyms":["Kuznieckého syndrom"]},"uk":{"name":"Синдром пахігірії - інтелектуальної недостатності - епілепсії","synonyms":["Синдром Кузнецького"],"definition":"A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated."},"zh":{"name":"巨脑回畸形-智力障碍-癫痫综合征","synonyms":["Kuzniecky综合征"]},"tr":{"name":"Pakigri-zihinsel yetersizlik-epilepsi sendromu","synonyms":["Kuzniecky sendromu"]}},"xrefs":[{"source":"OMIM","code":"600176","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010840","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538091","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1838491","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"409","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":163209,"name":"Non-syndromic cerebral malformation due to abnormal neuronal migration","classifications":[147,156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"17343267[PMID]_8129645[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17343267[PMID]_8129645[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null}]}}