{"orpha":1528,"name":"Craniotelencephalic dysplasia","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1528/","orphanet_url":"https://www.orpha.net/en/disease/detail/1528","names":{"fr":{"name":"Dysplasie cranio-télencéphalique","definition":"Anomalie rare du développement embryonnaire caractérisée par une craniosynostose avec encéphalocèle frontale et diverses autres anomalies cérébrales (hydrocéphalie sévère, agénésie du corps calleux, lissencéphalie et polymicrogyrie, kystes parenchymateux, dysplasie septo-optique) entraînant un important dysfonctionnement cérébral, des crises convulsives et un retard psychomoteur très sévère. Aucun cas n'a été décrit dans la littérature depuis 1983."},"de":{"name":"Dysplasie, kraniotelenzephale","definition":"Die kraniotelenzephale Dysplasie ist ein extrem seltener, genetisch bedingter Entwicklungsdefekt während der Embryogenese, der gekennzeichnet ist durch eine Kraniosynostose mit frontaler Enzephalozele und verschiedenen zusätzlichen Hirnanomalien (schwerer Hydrozephalus, Agenesie des Corpus callosum, Lissenzephalie und Polymikrogyrie, parenchymale Zysten, septo-optische Dysplasie). Diese führen zu ausgeprägten zerebralen Funktionsstörungen, Krampfanfällen und sehr schwerer psychomotorischer Verzögerung. Seit 1983 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Displasia craneotelencefálica","definition":"Es un defecto del desarrollo embrionario genético poco frecuente, caracterizado por craneosinostosis con encefalocele frontal y varias anomalías cerebrales adicionales (hidrocefalia grave, agenesia del cuerpo calloso, lisencefalia y polimicrogiria, quistes parenquimatosos, displasia septo-óptica) que resultan en disfunción cerebral marcada, crisis y retraso psicomotor muy grave. No se han descrito más casos en la literatura desde 1983."},"it":{"name":"Displasia craniotelencefalica","definition":"La displasia cranio-telencefalica è un difetto genetico molto raro dello sviluppo dell'embrione, caratterizzato da craniosinostosi con encefalocele frontale e altre anomalie cerebrali (idrocefalo grave, agenesia del corpo calloso, lissencefalia e polimicrogiria, cisti parenchimali, displasia setto-ottica), che esitano in una marcata disfunzione cerebrale, nelle crisi epilettiche e in un ritardo psicomotorio molto marcato. Non sono stati descritti nuovi casi dopi il 1983."},"nl":{"name":"Craniotelencefalische dysplasie","definition":"Craniotelencefalische dysplasie is een uiterst zeldzaam, genetisch syndroom met een ontwikkelingsdefect tijdens de embryogenese, en wordt gekarakteriseerd door craniosynostose met frontale encefalocèle en verscheidene bijkomende hersenanomalieën (ernstige hydrocefalie, agenesie van het corpus callosum, lissencefalie en polymicrogyrie, parenchymale cysten, septo-optische dysplasie), wat leidt tot opvallende cerebrale disfunctie, insulten en zeer ernstige psychomotorische achterstand. Sinds 1983 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Displasia craniotelencefálica"},"pl":{"name":"Dysplazja czaszki i kresomózgowia","definition":"*Dysplazja czaszki i kresomózgowia jest niezwykle rzadką, genetycznie uwarunkowaną wadą rozwojową powstałą podczas embriogenezy, która charakteryzuje się kraniosynostozą z czołową przepukliną mózgową i różnymi dodatkowymi wadami mózgu (ciężkie wodogłowie, agenezja ciała modzelowatego, lizencefalia – bezzakrętowość i polimikrogyria - drobnozakrętowość, torbiele miąższu, dysplazja przegrodowo-oczna), będącymi przyczyną poważnej dysfunkcji mózgu, drgawek i znacznego opóźnienia psychoruchowego. Od 1983 roku w literaturze nie pojawiły się nowe opisy tej dysplazji."},"cs":{"name":"Kraniotelencefalická dysplázie"},"uk":{"name":"Краніотеленцефальна дисплазія","definition":"Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983."},"zh":{"name":"颅端脑发育不良"},"tr":{"name":"Kraniotelensefalik displazi"}},"xrefs":[{"source":"OMIM","code":"218670","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1684038717"},{"source":"MONDO","code":"0009042","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535597","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857471","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1605","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":102010,"name":"Other syndrome with lissencephaly as a major feature","classifications":[147,156,181]},{"orpha":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"6859106[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6859106[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"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:0002139","label":"Arrhinencephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007330","label":"Frontoethmoidal encephalocele","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001339","label":"Lissencephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100842","label":"Septo-optic dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null}]}}