Syringomyelia

General Information (adopted from Orphanet):

Synonyms, Signs: Hydromelia
Number of Symptoms 36
OrphanetNr: 3280
OMIM Id: 186700
ICD-10: G95.0
UMLs: C0039144
MeSH: D013595
MedDRA: 10042928
Snomed: 111496009

Prevalence, inheritance and age of onset:

Prevalence: 8.4 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
Not applicable
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Medullar disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000020) Urinary incontinence 75 / 7739
2
(HPO:0002699) Abnormality of the foramen magnum 2 / 7739
3
(HPO:0002277) Horner syndrome 7 / 7739
4
(HPO:0000639) Nystagmus 555 / 7739
5
(HPO:0001291) Abnormality of the cranial nerves 27 / 7739
6
(HPO:0012046) Areflexia of upper limbs 2 / 7739
7
(HPO:0002076) Migraine 41 / 7739
8
(HPO:0002317) Unsteady gait 45 / 7739
9
(HPO:0003487) Babinski sign 179 / 7739
10
(HPO:0002315) Headache 175 / 7739
11
(HPO:0002395) Lower limb hyperreflexia 26 / 7739
12
(HPO:0003474) Sensory impairment 54 / 7739
13
(HPO:0002066) Gait ataxia 327 / 7739
14
(HPO:0003401) Paresthesia 42 / 7739
15
(HPO:0002061) Lower limb spasticity 56 / 7739
16
(HPO:0001260) Dysarthria 329 / 7739
17
(HPO:0002650) Scoliosis 705 / 7739
18
(HPO:0005878) Enlarged sagittal diameter of the cervical canal 1 / 7739
19
(HPO:0003690) Limb muscle weakness 41 / 7739
20
(HPO:0001324) Muscle weakness 859 / 7739
21
(OMIM) Spasticity of the lower limbs 5 / 7739
22
(OMIM) Touch, vibration, and limb position may or may not be affected 2 / 7739
23
(MedDRA:10028836) Neck pain 3 / 7739
24
(OMIM) Segmental sensory loss, especially of pain and temperature 2 / 7739
25
(OMIM) Loss of pain and temperature in a cape-like distribution 2 / 7739
26
(OMIM) Arm pain 2 / 7739
27
(OMIM) Chiari I malformation on MRI 2 / 7739
28
(OMIM) Burning pain in the limbs 2 / 7739
29
(OMIM) Muscle atrophy in the limbs 2 / 7739
30
(OMIM) Upper limb weakness 5 / 7739
31
(OMIM) Hyperreflexia, especially of the lower limbs 2 / 7739
32
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
33
(OMIM) Associated with abnormalities at the foramen magnum, especially Chiari malformation type I (118420) 1 / 7739
34
(OMIM) Areflexia of the upper limbs 3 / 7739
35
(HPO:0007099) Arnold-Chiari type I malformation 18 / 7739
36
(HPO:0003396) Syringomyelia 16 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Syringomyelia (Greek: 'syrinx,' pipe, and 'myelos,' marrow) is a tubular cavity in the spinal cord. It can occur sporadically in association with spinal cord tumors, inflammatory arachnoiditis, or posttraumatically. It is rarely idiopathic (less than 1% of cases). ...
Clinical Description OMIM Caraceni and Giovannini (1977) reported 4 sibs with syringomyelia who had symptom onset in their thirties or forties. Each had variable clinical features, including segmental loss of pain and temperature sensation, muscle weakness and atrophy of the upper ...