{"orpha":250972,"name":"Polymicrogyria with optic nerve hypoplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Polymicrogyria with optic nerve hypoplasia is a rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-250972/","orphanet_url":"https://www.orpha.net/en/disease/detail/250972","names":{"fr":{"name":"Polymicrogyrie avec hypoplasie du nerf optique","definition":"Un syndrome génétique rare de malformation du système nerveux central. Il se caractérise par un retard de développement sévère, une hypotonie néonatale, des convulsions, une hypoplasie du nerf optique et des malformations caractéristiques du système nerveux central, dont une polymicrogyrie bilatérale étendue, un corps calleux dysplasique ou absent, et un tronc cérébral malformé avec perte de la démarcation du sillon ponto-médullaire."},"de":{"name":"Polymikrogyrie mit Sehnerv-Hypoplasie"},"es":{"name":"Polimicrogiria con hipoplasia del nervio óptico","definition":"Es un síndrome genético poco frecuente con malformaciones del sistema nervioso central, caracterizado por retraso grave del desarrollo, hipotonía neonatal, crisis, hipoplasia del nervio óptico, y diversas malformaciones del sistema nervioso central, que incluyen polimicrogiria bilateral extensa, displasia o ausencia del cuerpo calloso y tronco encefálico anómalo con pérdida de la demarcación de la unión pontomedular."},"it":{"name":"Polimicrogiria con ipoplasia del nervo ottico","definition":"La polimicrogiria con ipoplasia del nervo ottico è una malattia genetica rara associata a malformazioni del sistema nervoso centrale, caratterizzata da grave ritardo dello sviluppo, ipotonia neonatale, crisi epilettiche, ipoplasia del nervo ottico e malformazioni caratteristiche del sistema nervoso centrale (polimicrogiria bilaterale diffusa, displasia o agenesia del corpo calloso, malformazione del tronco encefalico e perdita della demarcazione della giunzione ponto-midollare)."},"nl":{"name":"Polymicrogyrie met hypoplasie van nervus opticus","synonyms":["Polymicrogyrie met hypoplasie van oogzenuw"],"definition":"Polymicrogyrie met opticushypoplasie is een zeldzaam, genetisch syndroom met malformaties van het centrale zenuwstelsel, en wordt gekarakteriseerd door ernstige ontwikkelingsachterstand, neonatale hypotonie, insulten, hypoplasie van de oogzenuw, en kenmerkende misvormingen van het centrale zenuwstelsel waaronder omvangrijke bilaterale polymicrogyrie, dysplastisch of afwezig corpus callosum (hersenbalk) en misvormde hersenstam met verlies van demarcatie van de pontomedullaire junctie."},"pt":{"name":"Polimicrogiria com hipoplasia do nervo óptico"},"pl":{"name":"Polimikrogyria z hipoplazją nerwu wzrokowego","definition":"*Polimikrogyria z hipoplazją nerwu wzrokowego jest rzadkim zespołem genetycznym z wadami ośrodkowego układu nerwowego, który charakteryzuje się poważnym opóźnieniem rozwoju, wiotkością u noworodków, napadami drgawkowymi, niedorozwojem nerwu wzrokowego i charakterystycznymi, wyraźnymi wadami rozwojowymi ośrodkowego układu nerwowego, w tym rozległą obustronną polimikrogyrią, dysplazją lub brakiem ciała modzelowatego oraz zniekształceniem pnia mózgu z brakiem odgraniczenia złącza mostowo-rdzeniowego."},"cs":{"name":"Polymikrogyrie s hypoplázií zrakového nervu"},"uk":{"name":"Полімікрогірія з гіпоплазією зорового нерва","definition":"Polymicrogyria with optic nerve hypoplasia is a rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction."},"zh":{"name":"多小脑回伴视神经发育不全性","definition":"多小脑回伴视神经发育不全是一种罕见的遗传综合征伴中枢神经系统畸形，其特征是发育迟缓、新生儿肌张力低下、癫痫发作、视神经发育不良和明显的中枢神经系统畸形，包括广泛的双侧多脑回，胼胝体发育不良或缺失，脑干畸形伴脑桥延髓连接处界线缺失。"},"tr":{"name":"Optik sinir hipoplazi ile seyreden polimikrogri"}},"xrefs":[{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013172","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567715","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2750798","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":166478,"name":"Cerebral malformation with epilepsy","classifications":[156,181]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":269564,"name":"Genetic syndrome with a central nervous system malformation as a major feature","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]},{"orpha":137905,"name":"Syndromic optic nerve hypoplasia","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"TUBA8","name":"tubulin alpha 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19896110[PMID]","hgnc":"12410","ensembl":"ENSG00000183785","omim":"605742","loci":["22q11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"19896110[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19896110[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-02","source":"30016746[PMID]_19896110[PMID]","terms":[{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030048","label":"Colpocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000609","label":"Optic nerve hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006989","label":"Dysplastic corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002365","label":"Hypoplasia of the brainstem","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012469","label":"Infantile spasms","frequency":"Occasional (29-5%)","criteria":null}]}}