Arnold-Chiari malformation type II

General Information (adopted from Orphanet):

Synonyms, Signs: ARNOLD-CHIARI MALFORMATION
CM2
Arnold-Chiari malformation type 2
Chiari malformation type 2
Chiari malformation type II
Number of Symptoms 35
OrphanetNr: 1136
OMIM Id: 207950
ICD-10: Q07.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Not applicable
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Spina bifida cystica
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000639) Nystagmus 555 / 7739
2
 (HPO:0001251) Ataxia 413 / 7739
3
 (HPO:0002179) Opisthotonus 35 / 7739
4
 (HPO:0001257) Spasticity 251 / 7739
5
 (HPO:0002015) Dysphagia 301 / 7739
6
 (HPO:0012318) Occipital neuralgia 1 / 7739
7
 (HPO:0002315) Headache 175 / 7739
8
 (HPO:0010301) Spinal dysraphism 14 / 7739
9
 (HPO:0002414) Spina bifida 47 / 7739
10
 (HPO:0011968) Feeding difficulties 240 / 7739
11
 (HPO:0000961) Cyanosis 60 / 7739
12
 (HPO:0005348) Inspiratory stridor 8 / 7739
13
 (HPO:0010547) Muscle flaccidity 466 / 7739
14
 (HPO:0001324) Muscle weakness 859 / 7739
15
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
16
 (HPO:0001252) Muscular hypotonia 990 / 7739
17
 (HPO:0003690) Limb muscle weakness 41 / 7739
18
 (OMIM) Ventricular anomalies 1 / 7739
19
 (OMIM) Absent cisterna magna 1 / 7739
20
 (HPO:0000238) Hydrocephalus 278 / 7739
21
 (HPO:0002483) Bulbar signs 9 / 7739
22
 (OMIM) Subnormal intelligence (62%) 1 / 7739
23
 (HPO:0002308) Arnold-Chiari malformation 42 / 7739
24
 (OMIM) Associated with syringomyelia (186700) 1 / 7739
25
 (HPO:0001274) Agenesis of corpus callosum frequent [HPO:skoehler] 142 / 7739
26
 (HPO:0001426) Multifactorial inheritance 37 / 7739
27
 (OMIM) Expiratory apnea with cyanosis 1 / 7739
28
 (OMIM) Upper limb weakness 5 / 7739
29
 (OMIM) Herniation and elongation of the cerebellar tonsils, cerebellar vermis, brainstem, and fourth ventricle through the foramen magnum 1 / 7739
30
 (OMIM) Partial or total agenesis of the corpus callosum (33%) 1 / 7739
31
 (HPO:0002318) Cervical myelopathy 10 / 7739
32
 (HPO:0002282) Heterotopia 21 / 7739
33
 (OMIM) Small, thin cerebellum 1 / 7739
34
 (OMIM) Polygyria 1 / 7739
35
 (MedDRA:10008589) Choking 6 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Chiari malformation type II (CM2), also known as the Arnold-Chiari malformation, consists of elongation and descent of the inferior cerebellar vermis, cerebellar hemispheres, pons, medulla, and fourth ventricle through the foramen magnum into the spinal canal. CM2 is ...
Clinical Description OMIM Lindenberg and Walker (1971) described the Arnold-Chiari malformation in 2 successively born daughters of nonconsanguineous parents. Both children had associated hydrocephalus and lumbar meningomyelocele.

In a review, Stevenson (2004) noted that CM2 is associated with polygyria, ...