{"orpha":280640,"name":"Occipital pachygyria and polymicrogyria","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Occipital MCD","Occipital malformations of cortical development"],"definition":"A rare, genetic, cerebral malformation characterized by the presence of cortical smoothening with loss of secondary and tertiary gyri, associated with an excessive number of small, irregular gyri with increased cortical thickness, located in the occipital lobes. Patients usually present with seizures (including myoclonic-astatic, absence, atypical absence, vision loss, myoclonic-atonic, generalized tonic-clonic) and variable (absent to moderate) developmental and/or intellectual delay.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280640/","orphanet_url":"https://www.orpha.net/en/disease/detail/280640","names":{"fr":{"name":"Pachygyrie et polymicrogyrie occipitales","synonyms":["MCD occipital","Malformation occipitale du développement cortical"],"definition":"Malformation cérébrale génétique rare caractérisée par la présence d'un cortex lisse avec perte des gyri secondaires et tertiaires, associée à un nombre excessif de petits gyri irréguliers dans un cortex anormalement épaissi, situés dans les lobes occipitaux. Les patients présentent généralement des crises (y compris myocloniques-astatiques, absences, absences atypiques, perte de vision, myocloniques-atoniques, tonico-cloniques généralisées), et un retard de développement et/ou une déficience intellectuelle de sévérité variable (allant de nulle à modérée)."},"de":{"name":"Okzipitale Pachygyrie und Polymikrogyrie","synonyms":["MCD, okzipitale","Okzipitale Fehlbildungen der kortikalen Entwicklung"]},"es":{"name":"Polimicrogiria y paquigiria occipital","synonyms":["MCD occipital","Malformaciones occipitales del desarrollo cortical"],"definition":"La polimicrogiria y paquigiria occipital es una malformación cerebral, genética y poco frecuente, caracterizada por alteración de la sulcación cerebral con pérdida de giros secundarios y terciarios, asociada con un número excesivo de pequeños giros irregulares de grosor cortical incrementado, localizados en los lóbulos occipitales. Los afectados suelen presentar crisis (mioclónicas-astáticas, ausencias típicas o atípicas, de pérdida de visión, mioclónicas-atónicas, tónico-clónicas generalizadas) y variable retraso intelectual y/o del desarrollo (de ausente a moderado)."},"it":{"name":"Pachigiria e polimicrogiria occipitali","synonyms":["MCD occipitale","Malformazioni occipitali dello sviluppo corticale"],"definition":"La pachigiria e polimicrogiria occipitale sono malformazioni cerebrali genetiche rare, caratterizzate da un aspetto liscio della corteccia con perdita della circonvoluzione secondaria e terziaria, associata ad un numero eccessivo di circonvoluzioni piccole ed irregolari con maggiore spessore corticale, localizzate nei lobi occipitali. Di solito i pazienti presentano crisi epilettiche (miocloniche-astatiche, di assenza, di assenza atipiche, con perdita della vista, miocloniche-atoniche, tonico-cloniche generalizzate) e ritardo dello sviluppo e/o disabilità intellettiva di grado variabile (assente-moderato)."},"nl":{"name":"Occipitale pachygyrie en polymicrogyrie","synonyms":["Occipitale MCD","Occipitale malformaties van corticale ontwikkeling"],"definition":"Occipitale pachygyrie en polymicrogyrie is een zeldzame, genetische, cerebrale malformatie en wordt gekarakteriseerd door afvlakking van de cortex met verlies van secundaire en tertiaire gyri, geassocieerd met een overmatig aantal kleine en onregelmatige gyri met verhoogde corticale dikte, gesitueerd in de occipitale kwabben. Patiënten presenteren zich meestal met insulten (waaronder myoclonisch-astatisch, absence, atypische absence, verlies van gezichtsvermogen, myoclonisch-atonisch, gegeneraliseerd tonisch-clonisch) en variabele (afwezige tot matige) ontwikkelings- en/of intellectuele achterstand."},"pt":{"name":"Paquigiria occipital e polimicrogiria","synonyms":["MCD occipital","Malformações occipitais do desenvolvimento cortical"]},"pl":{"name":"Szerokozakrętowość i drobnozakrętowość potyliczna","synonyms":["Occipital malformations of cortical development","Potyliczne MCD"],"definition":"*Szerokozakrętowość i drobnozakrętowość potyliczna to rzadka, genetycznie uwarunkowana wada rozwojowa mózgu, która charakteryzuje się wygładzeniem kory mózgowej z utratą zakrętów drugo- i trzeciorzędowych, z towarzyszącą nadmierną liczbą małych, nieregularnych zakrętów wraz ze zwiększoną grubością kory, zlokalizowanych w płatach potylicznych. U pacjentów zwykle występują napady drgawkowe (w tym miokloniczno-astatyczne, nieświadomości, atypowej nieświadomości, utraty wzroku, miokloniczno-atoniczne, uogólnione toniczno-kloniczne) i opóźnienie rozwoju i/lub opóźnienie intelektualne o zmiennym stopniu nasilenia (brak lub umiarkowane)."},"cs":{"name":"Okcipitální pachygyrie a polymikrogyrie","synonyms":["Okcipitální MCD","Okcipitální malformace kortikálního vývoje"]},"uk":{"name":"Потилична пахігірія та полімікрогірія","synonyms":["Потиличні вади розвитку кори головного мозку","Потиличний MCD"],"definition":"A rare, genetic, cerebral malformation characterized by the presence of cortical smoothening with loss of secondary and tertiary gyri, associated with an excessive number of small, irregular gyri with increased cortical thickness, located in the occipital lobes. Patients usually present with seizures (including myoclonic-astatic, absence, atypical absence, vision loss, myoclonic-atonic, generalized tonic-clonic) and variable (absent to moderate) developmental and/or intellectual delay."},"zh":{"name":"枕叶巨脑回与多小脑回","synonyms":["枕叶皮质发育畸形"],"definition":"枕骨巨脑回多小脑回病是一种罕见的遗传性大脑畸形，其特征是皮质光滑，第二和第三回缺失，与位枕叶皮质增厚和不规则小脑回数量过多有关。患者常表现为惊厥发作（包括肌阵挛-站立不能、失神、非典型失神、视力丧失、肌阵挛-失张力、全身强直阵挛）和可变的（无到中度）发育和/或智力发育延迟。"},"tr":{"name":"Oksipital pakigiri ve polimikrogri","synonyms":["Oksipital MCD","Kortikal gelişimin oksipital malformasyonları"]}},"xrefs":[{"source":"OMIM","code":"614115","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013583","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190688","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":163209,"name":"Non-syndromic cerebral malformation due to abnormal neuronal migration","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"LAMC3","name":"laminin subunit gamma 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21572413[PMID]","hgnc":"6494","ensembl":"ENSG00000050555","omim":"604349","loci":["9q34.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"21572413[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}