{"orpha":35981,"name":"Polymicrogyria","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A heterogenous group of cerebral cortical malformations characterized by excessive cortical folding and abnormal cortical layering that, depending on its topographic distribution, presents with variable combinations of neurological symptoms of varying severity such as epilepsy, developmental delay, intellectual disability, motor dysfunction (e.g. spasticity), and pseudobulbar palsy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-35981/","orphanet_url":"https://www.orpha.net/en/disease/detail/35981","names":{"fr":{"name":"Polymicrogyrie","definition":"Groupe hétérogène de malformations corticales cérébrales caractérisées par un excès de gyrations et une stratification anormale du cortex lesquels, suivant leur répartition topographique, se manifestent par différentes combinaisons de symptômes neurologiques de gravité variable tels qu'une épilepsie, un retard de développement, une déficience intellectuelle, des troubles moteurs (par exemple une spasticité) et une paralysie pseudo-bulbaire."},"de":{"name":"Polymikrogyrie","definition":"Eine heterogene Gruppe zerebraler kortikaler Fehlbildungen, die durch übermäßige kortikale Faltung und abnorme kortikale Schichtung gekennzeichnet ist und je nach topografischer Verteilung unterschiedliche Kombinationen neurologischer Symptome unterschiedlichen Schweregrades aufweist, wie Epilepsie, Entwicklungsverzögerung, intellektuelle Beeinträchtigung, motorische Dysfunktion (z. B. Spastizität) und Pseudobulbärparese."},"es":{"name":"Polimicrogiria","definition":"Es un grupo heterogéneo de malformaciones de la corteza cerebral caracterizado por excesivos plegamientos corticales y estratificación cortical anómala que, según su distribución topográfica, presentan combinaciones variables de síntomas neurológicos de diferente gravedad, tales como epilepsia, retraso en el desarrollo, discapacidad intelectual, disfunción motora (p. ej., espasticidad) y parálisis pseudobulbar."},"it":{"name":"Polimicrogiria","definition":"La polimicrogiria (PMG) comprende un gruppo eterogeneo di malformazioni della corteccia cerebrale. È caratterizzata da un aumento della plicatura della corteccia ed anomalie della stratificazione corticale che, a seconda della distribuzione topografica, si manifesta con sintomi neurologici di gravità variabile, come l'epilessia, il ritardo dello sviluppo, la disabilità intellettiva, la disfunzione motoria (spasticità) e la paralisi pseudobulbare."},"nl":{"name":"Polymicrogyrie","definition":"Een heterogene groep van cerebrale corticale malformaties, gekarakteriseerd door overmatige corticale vouwing en abnormale vorming van corticale lagen die zich, afhankelijk van de topografische verdeling, manifesteren met variabele combinaties van neurologische symptomen met variabele gradaties van ernst zoals epilepsie, ontwikkelingsachterstand, intellectuele achterstand, motorische disfunctie (e.g. spasticiteit) en pseudobulbaire verlamming."},"pt":{"name":"Polimicrogiria"},"pl":{"name":"Polimikrogyria"},"cs":{"name":"Polymikrogyrie"},"uk":{"name":"Полімікрогірія","definition":"A heterogenous group of cerebral cortical malformations characterized by excessive cortical folding and abnormal cortical layering that, depending on its topographic distribution, presents with variable combinations of neurological symptoms of varying severity such as epilepsy, developmental delay, intellectual disability, motor dysfunction (e.g. spasticity), and pseudobulbar palsy."},"zh":{"name":"多小脑回"},"tr":{"name":"Polimikrogiri"}},"xrefs":[{"source":"ICD-11","code":"LA05.50","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2081858551"},{"source":"MONDO","code":"0000087","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"87","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D065706","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0266464","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10073489","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":2925,"name":"OBSOLETE: Polymicrogyria-turricephaly-hypogenitalism syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"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":[{"orpha":268940,"name":"Bilateral polymicrogyria","type":"Morphological anomaly"},{"orpha":268943,"name":"Unilateral polymicrogyria","type":"Morphological anomaly"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable","X-linked dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}