Arnold-Chiari malformation type I

General Information (adopted from Orphanet):

Synonyms, Signs: CM1 WITH SYRINGOMYELIA, INCLUDED
CM1 CHIARI MALFORMATION TYPE I WITH SYRINGOMYELIA, INCLUDED
Chiari malformation type I
Arnold-Chiari malformation type 1
Chiari malformation type 1
Number of Symptoms 56
OrphanetNr: 268882
OMIM Id: 118420
ICD-10: G95.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Malformation of the neurenteric canal, spinal cord and column
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000020) Urinary incontinence 75 / 7739
2
 (HPO:0005758) Basilar impression 6 / 7739
3
 (HPO:0005759) Small flat posterior fossa 1 / 7739
4
 (HPO:0000613) Photophobia 158 / 7739
5
 (HPO:0000639) Nystagmus 555 / 7739
6
 (HPO:0000651) Diplopia 37 / 7739
7
 (HPO:0000365) Hearing impairment 539 / 7739
8
 (HPO:0000360) Tinnitus 29 / 7739
9
 (HPO:0002321) Vertigo 58 / 7739
10
 (HPO:0010780) Hyperacusis 5 / 7739
11
 (HPO:0012046) Areflexia of upper limbs 2 / 7739
12
 (HPO:0001260) Dysarthria 329 / 7739
13
 (HPO:0002315) Headache 175 / 7739
14
 (HPO:0002015) Dysphagia 301 / 7739
15
 (HPO:0003487) Babinski sign 179 / 7739
16
 (HPO:0002066) Gait ataxia 327 / 7739
17
 (HPO:0002317) Unsteady gait 45 / 7739
18
 (HPO:0002061) Lower limb spasticity 56 / 7739
19
 (HPO:0002076) Migraine 41 / 7739
20
 (HPO:0002395) Lower limb hyperreflexia 26 / 7739
21
 (HPO:0003401) Paresthesia 42 / 7739
22
 (HPO:0001291) Abnormality of the cranial nerves 27 / 7739
23
 (HPO:0003474) Sensory impairment 54 / 7739
24
 (HPO:0002650) Scoliosis 705 / 7739
25
 (HPO:0003690) Limb muscle weakness 41 / 7739
26
 (HPO:0001324) Muscle weakness 859 / 7739
27
 (OMIM) Areflexia of the upper limbs 3 / 7739
28
 (MedDRA:10053694) Saccadic eye movement 2 / 7739
29
 (OMIM) Hyperreflexia, especially of the lower limbs 2 / 7739
30
 (OMIM) Upper limb weakness 5 / 7739
31
 (OMIM) Spasticity of the lower limbs 5 / 7739
32
 (OMIM) Arm pain 2 / 7739
33
 (MedDRA:10028836) Neck pain 3 / 7739
34
 (OMIM) Increased slope of tentorium 1 / 7739
35
 (OMIM) Loss of pain and temperature in a cape-like distribution 2 / 7739
36
 (OMIM) Otoneurologic disturbances 1 / 7739
37
 (OMIM) Ocular disturbances, nonspecific 1 / 7739
38
 (OMIM) Decreased volume of posterior cranial fossa 1 / 7739
39
 (OMIM) Decreased height of supraocciput 1 / 7739
40
 (OMIM) Decreased CSF volume in posterior fossa 1 / 7739
41
 (OMIM) Decreased length of clivis 1 / 7739
42
 (OMIM) Floaters, flashing lights, visual field cuts 1 / 7739
43
 (HPO:0003396) Syringomyelia 16 / 7739
44
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
45
 (OMIM) Herniation of the cerebellar tonsils through the foramen magnum 5 mm or greater 1 / 7739
46
 (OMIM) Compression of cerebellar cisterns 1 / 7739
47
 (OMIM) Chiari I malformation on MRI 2 / 7739
48
 (OMIM) Syringomyelia, noncommunicating (80% of cases) 1 / 7739
49
 (OMIM) Retroflexion of odontoid process 1 / 7739
50
 (OMIM) Decreased volume of the posterior cranial fossa with normal hindbrain volume 1 / 7739
51
 (OMIM) Burning pain in the limbs 2 / 7739
52
 (OMIM) Headache, suboccipital, migraine-like (most common symptom) precipitated by coughing, sneezing, bending forward, lifting, neck extension 1 / 7739
53
 (OMIM) Segmental sensory loss, especially of pain and temperature 2 / 7739
54
 (OMIM) Touch, vibration, and limb position may or may not be affected 2 / 7739
55
 (HPO:0007099) Arnold-Chiari type I malformation 18 / 7739
56
 (OMIM) Muscle atrophy in the limbs 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Chiari malformation type I (CM1) is the protrusion of the cerebellar tonsils through the foramen magnum, defined radiologically as tonsillar descent of 5 mm or more. CM1 is associated with syringomyelia (see 186700) in up to 80% of ...
Clinical Description OMIM Bentley et al. (1975) described 2 families, each with 2 affected sibs. In the first family, a 54-year-old woman presented with a 25-year history of loss of pain and temperature sensation and weakness of the left arm. Myelography ...