1. Mendelian
  2. Rare Diseases
  3. CHIARI MALFORMATION TYPE II

Arnold-chiari Malformation Type Ii

Table of contents:

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.

Genes related to Arnold-chiari Malformation Type Ii

  • FUZ

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Arnold-chiari Malformation Type Ii

  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Muscular hypotonia
  • Spasticity
  • Feeding difficulties
  • Dysphagia
  • Hydrocephalus
  • Headache
  • Agenesis of corpus callosum

And another 17 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

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.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Arnold-chiari Malformation Type Ii Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Neural tube defect (sequence analysis of FUZ gene).

By CGC Genetics (Portugal).

FUZ
Specificity
100 %
Genes
100 %
Neural tube defect (sequence analysis of FUZ gene).

By CGC Genetics (Portugal).

FUZ
Specificity
100 %
Genes
100 %
FUZ.

By Fulgent Genetics Fulgent Genetics (United States).

FUZ
Specificity
100 %
Genes
100 %
Neural Tube Defects and Related Disorders , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics (Spain).

VANGL2, VANGL1, MMACHC, FUZ, MTHFD1, MTHFR, MTR, MTRR
Specificity
13 %
Genes
100 %

You can get up to -4 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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