CEREBROOCULOFACIOSKELETAL SYNDROME 4

General Information (adopted from Orphanet):

Synonyms, Signs: COFS4
Number of Symptoms 45
OrphanetNr:
OMIM Id: 610758
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000322) Short philtrum 130 / 7739
2
(HPO:0000490) Deeply set eye 131 / 7739
3
(HPO:0000252) Microcephaly 832 / 7739
4
(HPO:0007633) Bilateral microphthalmos 13 / 7739
5
(HPO:0000568) Microphthalmia 183 / 7739
6
(HPO:0000426) Prominent nasal bridge 121 / 7739
7
(HPO:0000581) Blepharophimosis 197 / 7739
8
(HPO:0000347) Micrognathia 426 / 7739
9
(HPO:0005458) Premature closure of fontanelles 3 / 7739
10
(HPO:0000639) Nystagmus 555 / 7739
11
(HPO:0000368) Low-set, posteriorly rotated ears 38 / 7739
12
(HPO:0000358) Posteriorly rotated ears 163 / 7739
13
(HPO:0000369) Low-set ears 372 / 7739
14
(HPO:0002353) EEG abnormality 188 / 7739
15
(HPO:0001263) Global developmental delay 853 / 7739
16
(HPO:0001276) Hypertonia 317 / 7739
17
(HPO:0001347) Hyperreflexia 363 / 7739
18
(HPO:0005830) Flexion contracture of toe 9 / 7739
19
(HPO:0001371) Flexion contracture 220 / 7739
20
(HPO:0001181) Adducted thumb 31 / 7739
21
(HPO:0001838) Rocker bottom foot 85 / 7739
22
(HPO:0002827) Hip dislocation 94 / 7739
23
(HPO:0100490) Camptodactyly of finger 212 / 7739
24
(HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
25
(HPO:0003015) Flared metaphysis 44 / 7739
26
(HPO:0002751) Kyphoscoliosis 131 / 7739
27
(HPO:0012385) Camptodactyly 113 / 7739
28
(HPO:0003083) Dislocated radial head 35 / 7739
29
(HPO:0003100) Slender long bone 45 / 7739
30
(HPO:0001511) Intrauterine growth retardation 358 / 7739
31
(HPO:0001531) Failure to thrive in infancy 26 / 7739
32
(HPO:0001510) Growth delay 295 / 7739
33
(HPO:0004322) Short stature 1232 / 7739
34
(OMIM) Premature closure of fontanels 1 / 7739
35
(HPO:0009879) Cortical gyral simplification 24 / 7739
36
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
37
(HPO:0003577) Congenital onset 133 / 7739
38
(HPO:0003828) Variable expressivity 130 / 7739
39
(OMIM) Simplified gyral pattern 11 / 7739
40
(HPO:0001321) Cerebellar hypoplasia 114 / 7739
41
(OMIM) Patient cells show a defect in transcription-coupled and global genome nucleotide excision repair 1 / 7739
42
(OMIM) Early death 13 / 7739
43
(OMIM) Stiff limbs 1 / 7739
44
(OMIM) Sloping acetabulae 1 / 7739
45
(HPO:0002126) Polymicrogyria 64 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) COFS4 is a severe autosomal recessive disorder characterized by growth retardation, dysmorphic facial features, arthrogryposis, and neurologic abnormalities. Cellular studies show a defect in both transcription-coupled and global genome nucleotide excision repair (TC-NER and GG-NER) (summary by Jaspers ...
Clinical Description OMIM Jaspers et al. (2007) described a patient with COFS who was the child of nonconsanguineous white Italian parents. The patient was born after a 37-week pregnancy complicated by intrauterine growth retardation. Amniocyte analysis did not reveal any karyotypic ...
Molecular genetics OMIM In the patient with COFS described by them, Jaspers et al. (2007) detected compound heterozygosity for mutations in the ERCC1 gene. On the maternal allele, a C-to-T transition was predicted to introduce a premature stop codon (126380.0001); the ...