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Arnold-Chiari malformation type I

Disease definition

A central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic.

ORPHA:268882

Classification level: Disorder
  • Synonym(s):
    • Arnold-Chiari malformation type 1
    • Chiari malformation type 1
    • Chiari malformation type I
  • Prevalence: Unknown
  • Inheritance: -
  • Age of onset: -
  • ICD-10: G95.0
  • OMIM: 118420
  • UMLS: C0750929
  • MeSH: -
  • GARD: -
  • MedDRA: 10056944
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