{"orpha":1398,"name":"Isolated cerebellar agenesis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Near total absence of cerebellum","Subtotal absence of cerebellum"],"definition":"A rare non-syndromic central nervous system malformation characterized by complete or near-complete absence of the cerebellum with a normal sized posterior fossa, possibly accompanied by hypoplasia of the brainstem. The clinical picture is highly variable, but typically includes ataxia, dysarthria, tremor, dysmetria, dysdiadochokinesia, and oculomotor abnormalities, in addition to impaired mental, motor, and language development and intellectual disability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1398/","orphanet_url":"https://www.orpha.net/en/disease/detail/1398","names":{"fr":{"name":"Agénésie isolée du cervelet","synonyms":["Hypoplasie/agénésie isolée cérébelleuse"],"definition":"Malformation rare non syndromique du système nerveux central caractérisée par l'absence complète ou quasi complète du cervelet avec une fosse postérieure de taille normale, éventuellement accompagnée d'une hypoplasie du tronc cérébral. Le tableau clinique est très variable, associant généralement une ataxie, une dysarthrie, des tremblements, une dysmétrie, une dysdiadochokinésie et des anomalies oculomotrices au retard du développement mental, moteur et du langage, et à une déficience intellectuelle."},"de":{"name":"Isolierte zerebelläre Agenesie","synonyms":["Chiari-Malformation Typ 4","Chiari-Malformation Typ IV","Fast vollständiges Fehlen des Zerebellums","Subtotales Fehlen des Zerebellums"],"definition":"Eine nicht-syndromale Fehlbildung des Zentralnervensystems, die durch ein vollständiges oder nahezu vollständiges Fehlen des Kleinhirns mit einer normal großen hinteren Schädelgrube gekennzeichnet ist und möglicherweise mit einer Hypoplasie des Hirnstamms einhergeht. Das klinische Bild ist sehr variabel, umfasst aber typischerweise Ataxie, Dysarthrie, Tremor, Dysmetrie, Dysdiadochokinese und okulomotorische Anomalien, zusätzlich zu einer beeinträchtigten psychischen, motorischen und sprachlichen Entwicklung und Intelligenzminderung."},"es":{"name":"Agenesia cerebelosa aislada","synonyms":["Ausencia casi total del cerebelo","Ausencia subtotal del cerebelo"],"definition":"Es una malformación del sistema nervioso central no sindrómica poco frecuente caracterizada por ausencia completa o casi completa del cerebelo con una fosa posterior de tamaño normal, posiblemente acompañada de hipoplasia del tronco cerebral. El cuadro clínico es muy variable, pero típicamente incluye ataxia, disartria, temblor, dismetría, disdiadococinesia y anomalías oculomotoras, así como afectación del desarrollo mental, motor y del lenguaje y discapacidad intelectual."},"it":{"name":"Agenesia isolata del cervelletto","definition":"Si tratta di una malformazione rara non sindromica del sistema nervoso centrale, caratterizzata dall'aplasia completa o pressoché completa del cervelletto, con una fossa posteriore di dimensioni normali, talvolta associata all'ipoplasia del tronco encefalico. Il quadro clinico è molto variabile, ma di solito comprende l'atassia, la disartria, i tremori, la dismetria, la disdiadococinesia, le anomalie oculomotorie, le anomalie dello sviluppo mentale, motorio e del linguaggio, e la disabilità intellettiva."},"nl":{"name":"Geïsoleerde cerebellaire agenesie","synonyms":["Bijna volledige afwezigheid van cerebellum","Geïsoleerde agenesie van kleine hersenen","Subtotale afwezigheid van cerebellum"],"definition":"Een zeldzame, niet-syndromale malformatie van centraal zenuwstelsel, gekarakteriseerd door volledige of bijna volledige afwezigheid van cerebellum, met een achterste schedelgroeve van normale omvang, mogelijk vergezeld van hypoplasie van hersenstam. Het klinische beeld is hoogst variabel, maar omvat doorgaans ataxie, dysartrie, tremor, dysmetrie, dysdiadochokinesie, en oculomotorische afwijkingen, bovenop verstoorde mentale en motorische ontwikkeling en taalontwikkeling, alsook intellectuele beperking."},"pt":{"name":"Agenesia cerebelosa isolada","synonyms":["Hipoplasia cerebelosa"]},"pl":{"name":"Izolowana agenezja móżdżku","synonyms":["Near total absence of cerebellum","Subtotal absence of cerebellum"]},"cs":{"name":"Izolovaná hypoplázie/ageneze mozečku","synonyms":["Near total absence of cerebellum","Subtotal absence of cerebellum"]},"uk":{"name":"Ізольована агенезія мозочка","synonyms":["Майже повна відсутність мозочка","Повна відсутність мозочка"],"definition":"A rare non-syndromic central nervous system malformation characterized by complete or near-complete absence of the cerebellum with a normal sized posterior fossa, possibly accompanied by hypoplasia of the brainstem. The clinical picture is highly variable, but typically includes ataxia, dysarthria, tremor, dysmetria, dysdiadochokinesia, and oculomotor abnormalities, in addition to impaired mental, motor, and language development and intellectual disability."},"zh":{"name":"孤立型小脑发育不全","synonyms":["大部分小脑缺如"]},"tr":{"name":"İzole serebellar agenez","synonyms":["Serebellumun subtotal yokluğu","Serebellumun neredeyse total yokluğu"]}},"xrefs":[{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"UMLS","code":"C0344488","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10008033","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":269224,"name":"Global cerebellar malformation","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null}]}}