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Chiari malformation type II

Disease Summary
Associated Targets (2)
Tbio

2


Explore Associated Targets
Mondo Description Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache.
Mondo Term and Equivalent IDs
MONDO:0008816:  Chiari malformation type II
GARD:0009232: 
Orphanet:1136: 
SCTID:373587001: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found