Chiari malformation type I

ORPHA: 2688821 Treatment Available

Overview

human disease

Available Treatments (1)

DrugFormStatusCountriesLead Time
Acetazolamide
Oral tablets 125mg, 250mg; Injectable powder for reconstitution 500mgFDA Approved112d

Clinical Presentation

Signs and symptoms associated with Chiari malformation type I, sourced from HPO and Orphanet clinical annotations.

Chiari type I malformationHeadacheRecurrent paroxysmal headacheNeck painSmall posterior fossaTinnitusNystagmusCranial nerve compressionVocal cord paralysisDysphagiaGait ataxiaProgressive cerebellar ataxiaMyelopathyVertigoLower limb hyperreflexiaIncreased intracranial pressureScoliosisFused cervical vertebraeSyringomyeliaSomatic sensory dysfunctionCervical C2/C3 vertebral fusionAnteriorly placed odontoid processCranial nerve paralysisDistal peripheral sensory neuropathyAbnormal vestibulocochlear nerve morphologyAbnormality of the clivusAbnormality of the eleventh cranial nerveAbnormality of the twelfth cranial nerveFunctional abnormality of the inner earAreflexia of upper limbsDysesthesiaStiff neckUrinary incontinencePhotophobiaDiplopiaMuscle weaknessAbnormality of the musculature of the lower limbsBrain stem compressionBabinski signBasilar impressionAdult onset sensorineural hearing impairmentCentral sleep apneaBasilar invaginationFatigable weakness of swallowing muscles

Classification & Codes

Orphanet Code

ORPHA:268882
Chiari malformation type I
OrphanetORPHA:268882
Treatments1 drug(s)
Symptoms on record44 signs
Statuspublished

Treatment Summary

Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO