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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: Neonatal, Infancy
  • ICD-10: Q07.0
  • ICD-11: LA07.4
  • OMIM: 118420
  • UMLS: C0750929
  • MeSH: -
  • GARD: -
  • MedDRA: 10056944

  A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018) Polski ()

Detailed information

Guidelines

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

Newborn screening

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.