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.
And another 17 symptoms. If you need more information about this disease we can help you.
Arnold-chiari Malformation Type Ii Is also known as cm2, arnold-chiari malformation, chiari malformation type ii, chiari malformation type 2, arnold-chiari malformation type 2.
Panel Name, Specifity and genes Tested/covered |
---|
![]() By CGC Genetics (Portugal).
FUZ
Specificity
100 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
FUZ
Specificity
100 %
Genes
100 % |
![]() By Fulgent Genetics Fulgent Genetics (United States).
FUZ
Specificity
100 %
Genes
100 % |
![]() By Reference Laboratory Genetics (Spain).
VANGL2, VANGL1, MMACHC, FUZ, MTHFD1, MTHFR, MTR, MTRR
Specificity
13 %
Genes
100 % |
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