{"orpha":269203,"name":"Isolated cerebellar vermis agenesis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, congenital, cerebellar malformation disorder characterized by complete or partial cerebellar vermis agenesis, with no other associated malformations or anomalies. Patients may be asymptomatic, although psychomotor delay, hypotonia and incoordination are usually associated. Additional variable manifestations include intellectual disability, oculomotor abnormalities (such as nystagmus, impaired smooth pursuit, impaired saccades, strabismus, ptosis, and oculomotor apraxia), retinopathy, abnormal visual evoked potentials, ataxia, episodic hyperpnea, and delayed gait acquisition, as well as delayed speech and language development.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-269203/","orphanet_url":"https://www.orpha.net/en/disease/detail/269203","names":{"fr":{"name":"Agénésie isolée du vermis cérébelleux","definition":"Malformation cérébelleuse congénitale rare caractérisée par une agénésie complète ou partielle du vermis cérébelleux, sans association avec d'autres malformations ou anomalies. Les patients peuvent être asymptomatiques, bien qu'un retard psychomoteur, une hypotonie et des troubles de la coordination soient généralement associés. Parmi les autres manifestations figurent de manière inconstante : déficience intellectuelle, anomalies oculomotrices (nystagmus, altération de la poursuite lisse, altération des saccades, strabisme, ptosis et apraxie oculomotrice), rétinopathie, potentiels évoqués visuels anormaux, ataxie, hyperpnée épisodique et retard dans l'acquisition de la marche, ainsi que retard de parole et de langage."},"de":{"name":"Isolierte Agenesie des Kleinhirnwurmes","definition":"Eine seltene, angeborene Kleinhirnfehlbildungsstörung, die durch eine vollständige oder partielle Kleinhirnvermis-Agenesie gekennzeichnet ist, ohne dass andere Fehlbildungen oder Anomalien damit einhergehen. Die Patienten können asymptomatisch sein, obwohl in der Regel eine psychomotorische Verzögerung, Hypotonie und Koordinationsstörung auftreten. Zu den weiteren variablen Manifestationen gehören Intelligenzminderung, okulomotorische Anomalien (wie Nystagmus, gestörtes Smooth Pursuit, gestörte Blickfolgebewegungen, Strabismus, Ptosis und okulomotorische Apraxie), Retinopathie, abnormale visuell evozierte Potenziale, Ataxie, episodische Hyperpnoe und verzögertes Laufenlernen sowie verzögerte Sprachentwicklung."},"es":{"name":"Agenesia aislada del vermis cerebeloso","definition":"Es una malformación cerebelosa, congénita y poco frecuente, caracterizado por agenesia completa o parcial del vermis cerebeloso, sin otras malformaciones o anomalías asociadas. Los pacientes pueden ser asintomáticos, aunque por lo general se asocian retraso psicomotor, hipotonía y falta de coordinación. Otras manifestaciones variables adicionales incluyen discapacidad intelectual, anomalías oculomotoras (como nistagmo, alteración de los movimientos sacádicos y de seguimiento lento, estrabismo, ptosis y apraxia oculomotora), retinopatía, potenciales evocados visuales anómalos, ataxia, hiperpnea episódica y adquisición retardada de la marcha, así como retraso en el desarrollo del habla y del lenguaje."},"it":{"name":"Agenesia isolata del verme cerebellare","definition":"Si tratta di una malformazione congenita rara del cervelletto, caratterizzata dall'agenesia completa o parziale del verme cerebellare, in assenza di altre malformazioni o anomalie. I pazienti possono essere asintomatici, ma di solito presentano ritardo psicomotorio, ipotonia e assenza di coordinazione. Altri segni clinici variabili sono la disabilità intellettiva, le anomalie oculomotorie (nistagmo, compromissione dei movimenti lenti di inseguimento e delle saccadi, strabismo, ptosi e aprassia oculomotoria), la retinopatia, le anomalie dei potenziali evocati visivi, l'atassia, gli episodi di iperpnea e il ritardo della deambulazione e dello sviluppo del linguaggio."},"nl":{"name":"Geïsoleerde cerebellaire vermis-agenesie","definition":"Een zeldzame, congenitale, cerebellaire malformatie gekarakteriseerd door volledige of gedeeltelijke agenesie van de cerebellaire vermis, zonder andere geassocieerde malformaties of anomalieën. Patiënten kunnen asymptomatisch zijn, hoewel psychomotorische achterstand, hypotonie en gebrek aan coördinatie doorgaans geassocieerd zijn. Bijkomende variabele manifestaties zijn onder meer intellectuele achterstand, oculomotorische afwijkingen (zoals nystagmus, verstoorde gladde volgbewegingen, verstoorde saccades, strabisme, ptose, en oculomotorische apraxie), retinopathie, abnormale visueel geëvoceerde potentialen, ataxie, episodische hyperpneu, en achterstand bij het leren stappen, alsook vertraagde spraak- en taalontwikkeling."},"pt":{"name":"Agenesia do vermis cerebeloso isolada"},"pl":{"name":"Izolowana agnezja robaka móżdżku"},"cs":{"name":"Izolovaná ageneze mozečkové vermis","synonyms":["Izolovaná ageneze vermis cerebela","Izolovaná ageneze vermis mozečku"]},"uk":{"name":"Ізольована агенезія червяка мозочка","definition":"A rare, congenital, cerebellar malformation disorder characterized by complete or partial cerebellar vermis agenesis, with no other associated malformations or anomalies. Patients may be asymptomatic, although psychomotor delay, hypotonia and incoordination are usually associated. Additional variable manifestations include intellectual disability, oculomotor abnormalities (such as nystagmus, impaired smooth pursuit, impaired saccades, strabismus, ptosis, and oculomotor apraxia), retinopathy, abnormal visual evoked potentials, ataxia, episodic hyperpnea, and delayed gait acquisition, as well as delayed speech and language development."},"zh":{"name":"孤立性小脑蚓部发育不全","definition":"一种罕见的先天性小脑畸形疾病，以小脑蚓部完全或部分发育不全为特征，无其他相关畸形或异常。患者可能没有症状，但精神运动延迟、肌张力低下和共济失调通常是相关的。其他可变表现包括智力障碍、动眼神经异常(如眼球震颤、平滑追踪受损、扫视受损、斜视、上睑下垂和动眼神经失用)、视网膜病、异常视觉诱发电位、共济失调、间歇性呼吸过度和步态习得延迟，以及言语和语言发育延迟。"},"tr":{"name":"İzole serebellar vermis agenezisi"}},"xrefs":[{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017107","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680776","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98514,"name":"Malformation of the cerebellar vermis","classifications":[147,181]}],"children":[{"orpha":269209,"name":"Isolated partial cerebellar vermis agenesis","type":"Clinical subtype"},{"orpha":269206,"name":"Isolated total cerebellar vermis agenesis","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_10488899[PMID]_7724272[PMID]"}],"phenotypes":null}