{"orpha":1126,"name":"Aprosencephaly cerebellar dysgenesis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic non-syndromic central nervous system malformation characterized by absence of the telencephalon and absent or abnormal diencephalic structures, combined with severe abnormalities of the mesencephalon and cerebellum. Further malformations, for example of the hands and feet, have been described in addition.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1126/","orphanet_url":"https://www.orpha.net/en/disease/detail/1126","names":{"fr":{"name":"Syndrome d'aprosencéphalie-dysgénésie cérébelleuse","definition":"Malformation rare non syndromique génétique du système nerveux central, caractérisée par l'absence du télencéphale et par l'absence ou des anomalies des structures du diencéphale, ainsi que par des anomalies sévères du mésencéphale et du cervelet. D'autres malformations, par exemple des mains et des pieds, ont aussi été rapportées."},"de":{"name":"Aprosenzephalie mit zerebellärer Dysgenesie","definition":"Eine genetisch bedingte nicht-syndromale Fehlbildung des Zentralnervensystems, die durch das Fehlen des Telenzephalons und fehlender oder abnormaler Zwischenhirnstrukturen gekennzeichnet ist, kombiniert mit schweren Anomalien des Mesoenzephalons und des Zerebellums. Andere Fehlbildungen, z. B. an Händen und Füßen, sind ebenfalls beschrieben worden."},"es":{"name":"Aprosencefalia - disgenesia cerebelosa","definition":"Es una malformación no sindrómica del sistema nervioso central, de origen genético y poco frecuente, caracterizada por la ausencia del telencéfalo y por estructuras diencefálicas ausentes o anómalas, asociado a graves anomalías del mesencéfalo y del cerebelo. Además, se han descrito malformaciones adicionales, p.ej. de las manos y los pies."},"it":{"name":"Aprosencefalia - disgenesia cerebellare","definition":"Si tratta di una malformazione genetica rara non sindromica del sistema nervoso centrale, caratterizzata dall'aplasia del telencefalo e dall'aplasia o da anomalie delle strutture diencefaliche, associate a gravi anomalie del mesencefalo e del cervelletto. I pazienti possono presentare anche altre malformazioni, ad esempio delle mani e dei piedi."},"nl":{"name":"Aprosencefalie cerebellaire dysgenesie","definition":"Een zeldzame, genetische, niet-syndromale malformatie van centraal zenuwstelsel, gekarakteriseerd door afwezigheid van telencephalon en afwezige of abnormale structuren van diencephalon, gecombineerd met ernstige afwijkingen mesencephalon en cerebellum. Daarbovenop werden bijkomende malformaties beschreven, bijvoorbeeld van handen en voeten."},"pt":{"name":"Aprosencefalia-disgenesia cerebelosa"},"pl":{"name":"Aprosencefalia dysgenezja móżdżku"},"cs":{"name":"Aprosencefalie - cerebelární dysgeneze"},"uk":{"name":"Апрозенцефалія з дизгенезією мозочка","definition":"A rare genetic non-syndromic central nervous system malformation characterized by absence of the telencephalon and absent or abnormal diencephalic structures, combined with severe abnormalities of the mesencephalon and cerebellum. Further malformations, for example of the hands and feet, have been described in addition."},"zh":{"name":"脑前部缺无合并小脑发育不全"},"tr":{"name":"Aprosensefali serebellar disgenezi"}},"xrefs":[{"source":"OMIM","code":"601374","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA05.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011062","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563331","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832412","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":268926,"name":"Midline cerebral malformation","classifications":[147,156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"8826432[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8826432[PMID]"}],"phenotypes":null}