Arnold-Chiari malformation type I

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Arnold-Chiari malformation type I

ORPHA:268882Morphological anomaly

Also called Chiari malformation type 1 · Chiari malformation type I · Arnold-Chiari malformation type 1

What it is

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.

Key facts

Age of onset
Infancy, Neonatal
Inheritance
Unknown
Classified as
Morphological anomaly

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Gene

DKK1Disease-causing germline mutation(s)

ICD-10 codes

Q07.0filed under a broader ICD-10 category

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 9233MEDDRA 10056944MONDO 0007316MONDO 7316OMIM 118420UMLS C0750929

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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