Isolated cerebellar vermis hypoplasia
Isolated cerebellar vermis hypoplasia is a rare non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay variable degrees of cognitive impairment hypotonia equilibrium disturbances static/dynamic ataxia oculomotor abnormalities epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
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Isolated cerebellar vermis hypoplasia?
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