CAMOS syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: CEREBELLAR ATAXIA WITH MENTAL RETARDATION, OPTIC ATROPHY, AND SKIN ABNORMALITIES
CAMOS
SCAR5
Cerebellar ataxia - intellectual deficit - optic atrophy - skin abnormalities
Number of Symptoms 32
OrphanetNr: 83472
OMIM Id: 606937
ICD-10: G11.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 5 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive congenital cerebellar ataxia
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease
Autosomal recessive syndromic optic atrophy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000020) Urinary incontinence 75 / 7739
2
 (HPO:0000252) Microcephaly 832 / 7739
3
 (HPO:0000657) Oculomotor apraxia 54 / 7739
4
 (HPO:0000565) Esotropia 58 / 7739
5
 (HPO:0000648) Optic atrophy 238 / 7739
6
 (HPO:0001332) Dystonia 197 / 7739
7
 (HPO:0010864) Intellectual disability, severe 120 / 7739
8
 (HPO:0002167) Neurological speech impairment 308 / 7739
9
 (HPO:0006887) Intellectual disability, progressive 68 / 7739
10
 (HPO:0002169) Clonus 37 / 7739
11
 (HPO:0001257) Spasticity 251 / 7739
12
 (HPO:0003487) Babinski sign 179 / 7739
13
 (HPO:0001251) Ataxia 413 / 7739
14
 (HPO:0001263) Global developmental delay 853 / 7739
15
 (HPO:0001347) Hyperreflexia 363 / 7739
16
 (HPO:0011448) Ankle clonus 31 / 7739
17
 (HPO:0001371) Flexion contracture 220 / 7739
18
 (HPO:0002607) Bowel incontinence 33 / 7739
19
 (HPO:0004325) Decreased body weight 492 / 7739
20
 (HPO:0004322) Short stature 1232 / 7739
21
 (HPO:0000951) Abnormality of the skin 147 / 7739
22
 (OMIM) Skin vessels with inversion of the usual osmiophilic pattern on electron microscopy 1 / 7739
23
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
24
 (HPO:0003680) Nonprogressive disorder 23 / 7739
25
 (HPO:0002280) Enlarged cisterna magna 12 / 7739
26
 (OMIM) Speech defect 3 / 7739
27
 (OMIM) Hemispheric atrophy 1 / 7739
28
 (HPO:0003577) Congenital onset 133 / 7739
29
 (OMIM) Diminished muscle strength 1 / 7739
30
 (HPO:0001272) Cerebellar atrophy 197 / 7739
31
 (OMIM) Foot clonus 1 / 7739
32
 (HPO:0002198) Dilated fourth ventricle 12 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Megarbane et al. (2001) reported a large inbred Lebanese family with 5 children affected by severe developmental delay, psychomotor retardation, proportionate short stature, cerebellar spastic ataxia, microcephaly, optic atrophy, speech defect, abnormal osmiophilic pattern of skin vessels, and ...
Molecular genetics OMIM In the family reported by Delague et al. (2002), Nicolas et al. (2010) identified a homozygous mutation in the ZNF592 gene (G1064R; 613624.0001).