{"orpha":163681,"name":"CNTNAP2-related developmental and epileptic encephalopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDFE syndrome","CDFES","CNTNAP2-related DEE","Cortical dysplasia-focal epilepsy syndrome"],"definition":"A rare, genetic, syndromic neurodevelopmental disorder characterized by moderate to mostly severe intellectual disability, speech impairment with normal or mildly delayed motor development and early-onset seizures often accompanied by developmental regression. Autistic behavior and stereotypic movements are common.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-163681/","orphanet_url":"https://www.orpha.net/en/disease/detail/163681","names":{"fr":{"name":"Encéphalopathie épileptique et développementale associée à CNTNAP2","synonyms":["Syndrome de dysplasie corticale-épilepsie focale"],"definition":"Maladie neurodéveloppementale rare, génétique et syndromique, caractérisée par une déficience intellectuelle modérée à très sévère, des troubles du langage, un développement moteur normal ou légèrement retardé et des crises d'épilepsie d'apparition précoce, souvent accompagnées d'une régression du développement. Des comportements autistiques et des mouvements stéréotypés sont fréquents."},"de":{"name":"CNTNAP2-assoziierte entwicklungsbedingte und epileptische Enzephalopathie","synonyms":["CDFE-Syndrom","CDFES","CNTNAP2-bezogene DEE","Kortikale Dysplasie-fokale Epilepsie-Syndrom"],"definition":"Eine genetisch bedingte syndromale neurologische Entwicklungsstörung, die durch eine mäßige bis meist schwere Intelligenzminderung, Sprachstörungen mit normaler oder leicht verzögerter motorischer Entwicklung und früh einsetzende Krampfanfälle gekennzeichnet ist, die häufig mit Entwicklungsrückschritten einhergehen. Autistisches Verhalten und stereotypische Bewegungen sind häufig."},"es":{"name":"Encefalopatía epiléptica y del desarrollo asociada a CNTNAP2","synonyms":["CDFES","Síndrome CDFE","Síndrome de displasia cortical-epilepsia focal"],"definition":"Es un trastorno sindrómico del neurodesarrollo, de origen genético y poco frecuente, caracterizado por discapacidad intelectual de moderada a grave en la mayoría de los casos, afectación del habla con desarrollo motor normal o ligeramente retrasado y crisis de inicio temprano, a menudo acompañadas de regresión del desarrollo. La conducta autista y los movimientos estereotipados son comunes."},"it":{"name":"Encefalopatia epilettica e dello sviluppo correlata a CNTNAP2","definition":"Si tratta di una malattia genetica rara del neurosviluppo, caratterizzata da disabilità intellettiva moderata - molto grave, deficit del linguaggio con sviluppo motorio normale o lievemente ritardato e crisi epilettiche ad esordio precoce, spesso associate a regressione dello sviluppo. Sono comuni i tratti autistici e i movimenti stereotipati."},"nl":{"name":"CNTNAP2-gerelateerde ontwikkelingsachterstand en epileptische encefalopathie","synonyms":["CDFE-syndroom","CDFES","CNTNAP2-gerelateerde DEE","Corticale dysplasie - focale epilepsie-syndroom"],"definition":"Een zeldzame, genetische syndromale neurologische ontwikkelingsstoornis, gekenmerkt door matige tot meestal ernstige intellectuele achterstand, spraakstoornis met normale of mild vertraagde motorische ontwikkeling, en vroeg optredende insulten die vaak gepaard gaan met ontwikkelingsregressie. Autistisch gedrag en stereotiepe bewegingen zijn gangbaar."},"pt":{"name":"Encefalopatia epiléptica e do desenvolvimento CNTNAP2-relacionada","synonyms":["Síndrome de displasia cortical-epilepsia focal"],"definition":"Perturbação sindrómica do neurodesenvolvimento, genética e rara, caracterizada por perturbação do desenvolvimento intelectual moderada a grave, compromisso da fala com desenvolvimento motor normal ou com discreto atraso e convulsões de início precoce, muitas vezes acompanhadas de regressão do desenvolvimento. Comportamento do espectro autista e movimentos estereotipados são comuns."},"pl":{"name":"Dysplazja kory mózgowej z padaczką ogniskową","synonyms":["CDFE syndrome","CDFES","CNTNAP2-related DEE","Cortical dysplasia-focal epilepsy syndrome"],"definition":"*Dysplazja kory mózgowej z padaczką ogniskową jest rzadką, genetycznie uwarunkowaną padaczką, która charakteryzuje się stosunkowo dużym obwodem głowy lub makrocefalią, osłabieniem lub brakiem głębokich odruchów ścięgnistych i łagodnym opóźnieniem ruchowym w okresie niemowlęcym, w przebiegu której pojawiają się następnie oporne na leczenie, ogniskowe napady padaczkowe z regresją mowy, zaburzeniami zachowania (nadpobudliwość, zaburzenia koncentracji, zachowania agresywne/autoagresja, cechy autystyczne) i niepełnosprawnością intelektualną w późniejszym życiu."},"cs":{"name":"Fokální epilepsie na podkladě kortikální dysplázie","synonyms":["CDFE syndrome","CDFES","CNTNAP2-related DEE","Cortical dysplasia-focal epilepsy syndrome"]},"uk":{"name":"CNTNAP2-залежна епілептична енцефалопатія розвитку","synonyms":["Синдром CDFE","CDFES","DEE, повязані з CNTNAP2","Синдром фокальної епілепсії з кортикальною дисплазією"],"definition":"A rare, genetic, syndromic neurodevelopmental disorder characterized by moderate to mostly severe intellectual disability, speech impairment with normal or mildly delayed motor development and early-onset seizures often accompanied by developmental regression. Autistic behavior and stereotypic movements are common."},"zh":{"name":"皮质发育不良型癫痫综合症","synonyms":["CDFE综合征"],"definition":"一种罕见的遗传性癫痫，其特征是头围相对较大或大头畸形，深部腱反射减弱或缺失，婴儿期轻度粗大运动延迟，之后发生顽固性局灶性癫痫发作伴语言倒退，晚年行为异常(多动，注意力缺陷，攻击性/自身攻击性行为，自闭症特征)和智力障碍。"},"tr":{"name":"Kortikal displazi-fokal epilepsi sendromu","synonyms":["CDFES","CDFE sendromu"]}},"xrefs":[{"source":"OMIM","code":"610042","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012400","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5575702","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":221150,"name":"OBSOLETE: Pitt-Hopkins-like syndrome","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":693802,"name":"Neonatal/infantile-onset epilepsy syndrome","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"CNTNAP2","name":"contactin associated protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16571880[PMID]","hgnc":"13830","ensembl":"ENSG00000174469","omim":"604569","loci":["7q35-q36.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":28.0,"area":"Worldwide","status":null,"source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-11-25","source":"24916270[PMID]_27439707[PMID]","terms":[{"hpo":"HP:0012757","label":"Abnormal neuron morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002269","label":"Abnormality of neuronal migration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031936","label":"Delayed ability to walk","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007334","label":"Bilateral tonic-clonic seizure with focal onset","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011198","label":"EEG with generalized epileptiform discharges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012001","label":"EEG with generalized polyspikes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010845","label":"EEG with generalized slow activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011182","label":"Interictal epileptiform activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007064","label":"Progressive language deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025160","label":"Abnormal temper tantrums","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006855","label":"Cerebellar vermis atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100021","label":"Cerebral palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011193","label":"EEG with focal spikes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004879","label":"Intermittent hyperventilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000744","label":"Low frustration tolerance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006970","label":"Periventricular leukomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100258","label":"Preaxial polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010863","label":"Receptive language delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000817","label":"Reduced eye contact","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000742","label":"Self-mutilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012166","label":"Skin-picking","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012171","label":"Stereotypical hand wringing","frequency":"Occasional (29-5%)","criteria":null}]}}