{"orpha":269218,"name":"Isolated unilateral hemispheric cerebellar hypoplasia/dysplasia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-269218/","orphanet_url":"https://www.orpha.net/en/disease/detail/269218","names":{"fr":{"name":"Hypoplasie/dysplasie isolée unilatérale des hémisphères cérébelleux","definition":"Une malformation cérébelleuse rare, non syndromique caractérisée par une perte de volume au niveau de l'hémisphère cérébelleux droit ou gauche, associé à un vermis intact, et en l'absence d'autre anomalie neurologique (les hémisphères cérébraux, les quatre ventricules, le pont cérébral, la moelle et le cervelet sont normaux). Les patients peuvent être asymptomatiques ou peuvent présenter un retard du développement et un retard de la parole, une hypotonie, des mouvements oculaires anormaux, des céphalées et/ou des vertiges périphériques persistants, et une ataxie. L'examen neurologique est par ailleurs normal."},"de":{"name":"Isolierte unilaterale hemisphärische zerebelläre Hypoplasie/Dysplasie","synonyms":["Isolierte unilaterale hemisphärische Kleinhirnhypoplasie"],"definition":"Die isolierte unilaterale hemisphärische Kleinhirnhypoplasie ist eine seltene, nicht-syndromale Kleinhirnfehlbildung, die durch einen Volumenverlust der rechten oder linken Kleinhirnhemisphäre bei intaktem Vermis gekennzeichnet ist und bei der keine weiteren neurologischen Anomalien (d.h. normale Großhirnhemisphären, vierter Ventrikel, Pons, Medulla und Mittelhirn) vorliegen. Die Patienten können asymptomatisch sein oder Entwicklungs- und Sprachverzögerungen, Hypotonie, abnorme Augenbewegungen, persistierende Kopfschmerzen und/oder peripheren Schwindel und Ataxie aufweisen. Die neurologische Untersuchung ist ansonsten normal."},"es":{"name":"Hipoplasia/displasia aislada unilateral de los hemisferios cerebelosos","definition":"Es una malformación cerebelosa no sindrómica poco frecuente, caracterizada por la pérdida de volumen en el hemisferio cerebeloso izquierdo o derecho, con vermis intacto y sin otras alteraciones neurológicas (p.ej., hemisferios cerebrales, cuarto ventrículo, protuberancia, bulbo y mesencéfalo normales). Los afectados pueden estar asintomáticos o presentar retraso del desarrollo y del habla, hipotonía, movimientos oculares anómalos, cefaleas persistentes y/o vértigo periférico y ataxia. Por lo demás, el examen neurológico es normal."},"it":{"name":"Ipoplasia/displasia isolata monolaterale dell'emisfero cerebellare","definition":"L'ipoplasia isolata monolaterale di un emisfero cerebellare è una malformazione cerebellare rara non sindromica, caratterizzata da perdita del volume nell'emisfero cerebellare destro o sinistro; il verme non è interessato e non si osservano altre anomalie neurologiche (gli emisferi cerebrali, il quarto ventricolo, il ponte, il midollo e il mesencefalo sono normali). I pazienti possono essere asintomatici oppure presentare ritardo dello sviluppo e del linguaggio, ipotonia, anomalie dei movimenti oculari, cefalea persistente e/o vertigine periferica ed atassia. Per il resto l'esame neurologico è normale."},"nl":{"name":"Geïsoleerde unilaterale hypoplasie/dysplasie van cerebellaire hemisfeer","synonyms":["Geïsoleerde unilaterale hypoplasie/dysplasie van kleinehersenhelft"],"definition":"Geïsoleerde unilaterale hemisferische cerebellaire hypoplasie is een zeldzame, niet-syndromale cerebellaire malformatie die gekarakteriseerd wordt door een verlies van volume in de rechter of linker cerebellaire hemisfeer, met intacte vermis en zonder andere neurologische anomalieën (i.e. cerebrale hemisferen, vierde ventrikel, pons, verlengde merg en middenhersenen zijn normaal). Patiënten kunnen asymptomatisch zijn of vertonen mogelijk ontwikkelings- en spraakachterstand, hypotonie, abnormale oogbewegingen, aanhoudende hoofdpijn en/of perifere vertigo en ataxie. Voor het overige zijn de resultaten van neurologisch onderzoek normaal."},"pt":{"name":"Hipoplasia dos hemisférios cerebelosos unilateral isolada"},"pl":{"name":"Izolowana jednostronna hipoplazja móżdżku"},"cs":{"name":"Izolovaná unilaterální hemisferická mozečková hypoplázie"},"uk":{"name":"Ізольована однобічна гіпоплазія півкуль мозочка","definition":"Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal."},"zh":{"name":"孤立性单侧小脑半球发育不全","definition":"孤立性单侧半球小脑发育不全是一种罕见的非综合征小脑畸形，其特征是右侧或左侧小脑半球体积减少，蚓部完整，无其他神经异常(即正常大脑半球、第四脑室、脑桥、延髓和中脑)。患者可能无症状，或者可能出现发育和言语延迟、肌肌张力低下、眼球运动异常、持续性头痛和/或周围性眩晕和共济失调。神经系统检查是正常的。"},"tr":{"name":"İzole unilateral hemisferik serebellar hipoplazi"}},"xrefs":[{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA06.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1960392411"},{"source":"MONDO","code":"0017112","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707885","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98516,"name":"Malformation of the cerebellar hemispheres","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}