CEREBROOCULOFACIOSKELETAL SYNDROME 1

General Information (adopted from Orphanet):

Synonyms, Signs: PENA-SHOKEIR SYNDROME, TYPE II
COFS SYNDROME
COFS
COFS1
Number of Symptoms 47
OrphanetNr:
OMIM Id: 214150
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000581) Blepharophimosis 197 / 7739
2
 (HPO:0000340) Sloping forehead 86 / 7739
3
 (HPO:0000490) Deeply set eye 131 / 7739
4
 (HPO:0000233) Thin vermilion border 124 / 7739
5
 (HPO:0000343) Long philtrum 262 / 7739
6
 (HPO:0000426) Prominent nasal bridge 121 / 7739
7
 (HPO:0000568) Microphthalmia 183 / 7739
8
 (HPO:0000252) Microcephaly 832 / 7739
9
 (HPO:0000347) Micrognathia 426 / 7739
10
 (HPO:0000518) Cataract 454 / 7739
11
 (HPO:0000639) Nystagmus 555 / 7739
12
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
13
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
14
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
15
 (HPO:0012469) Infantile spasms 18 / 7739
16
 (HPO:0002187) Intellectual disability, profound 44 / 7739
17
 (HPO:0006610) Wide intermamillary distance 46 / 7739
18
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
19
 (HPO:0012385) Camptodactyly 113 / 7739
20
 (HPO:0006380) Knee flexion contracture 56 / 7739
21
 (HPO:0000939) Osteoporosis 129 / 7739
22
 (HPO:0002987) Elbow flexion contracture 64 / 7739
23
 (HPO:0002751) Kyphoscoliosis 131 / 7739
24
 (HPO:0002673) Coxa valga 57 / 7739
25
 (HPO:0001838) Rocker bottom foot 85 / 7739
26
 (HPO:0008125) Second metatarsal posteriorly placed 2 / 7739
27
 (HPO:0001508) Failure to thrive 454 / 7739
28
 (HPO:0004681) Deep longitudinal plantar crease 3 / 7739
29
 (HPO:0001007) Hirsutism 91 / 7739
30
 (HPO:0010547) Muscle flaccidity 466 / 7739
31
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
32
 (HPO:0001324) Muscle weakness 859 / 7739
33
 (HPO:0001252) Muscular hypotonia 990 / 7739
34
 (OMIM) Optic tract and chiasm hypoplasia 1 / 7739
35
 (OMIM) Lack of motor development 3 / 7739
36
 (OMIM) Fibroblasts show hypersensitivity to UV irradiation due to defect in transcription-coupled nucleotide excision repair (TC-NER) 1 / 7739
37
 (OMIM) Focal microgyria 1 / 7739
38
 (OMIM) Third ventricle subependymal focal gliosis 1 / 7739
39
 (OMIM) Upper lip overlaps lower lip 1 / 7739
40
 (OMIM) Large ear pinnae 1 / 7739
41
 (HPO:0012448) Delayed myelination 51 / 7739
42
 (OMIM) Normal or decreased birth weight 1 / 7739
43
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
44
 (OMIM) Lack of speech development 20 / 7739
45
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
46
 (OMIM) Shallow acetabular angle 1 / 7739
47
 (OMIM) Subcortical gliosis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Cerebrooculofacioskeletal syndrome is an autosomal recessive progressive neurodegenerative disorder characterized by microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis (summary by Jaakkola et al., 2010).

- Genetic Heterogeneity of Cerebrooculofacioskeletal Syndrome

See ...
Clinical Description OMIM Pena and Shokeir (1974) observed 10 patients in 3 kindreds with a syndrome comprised of microcephaly, hypotonia, failure to thrive, arthrogryposis, eye defects, prominent nose, large ears, overhanging upper lip, micrognathia, widely set nipples, kyphoscoliosis, and osteoporosis. The ...
Molecular genetics OMIM Meira et al. (2000) presented evidence that 2 probands related to the Manitoba aboriginal population group within which COFS syndrome was originally reported by Lowry et al. (1971) and Pena and Shokeir (1974) had cellular phenotypes indistinguishable from ...