Cerebrooculofacioskeletal Syndrome 4; Cofs4

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Cerebrooculofacioskeletal syndrome-4 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 et al., 2007 and Kashiyama et al., 2013).For a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see {214150}.

Genes related to Cerebrooculofacioskeletal Syndrome 4; Cofs4

ERCC1

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Clinical Features

Top most frequent phenotypes and symptoms related to Cerebrooculofacioskeletal Syndrome 4; Cofs4

Global developmental delay
Short stature
Microcephaly
Growth delay
Nystagmus
Micrognathia
Abnormal facial shape
Flexion contracture
Hyperreflexia
Intrauterine growth retardation

And another 38 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Cerebrooculofacioskeletal Syndrome 4; Cofs4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Cerebrooculofacioskeletal syndrome 4 (sequence analysis of ERCC1 gene). By CGC Genetics (Portugal). ERCC1 Specificity 100 % Genes 100 %
Xeroderma Pigmentosum Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). XPA, XPC, DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH Specificity 12 % Genes 100 %
Xeroderma pigmentosum Comprehensive panel. By Connective Tissue Gene Tests (United States). XPA, XPC, DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH Specificity 12 % Genes 100 %
Xeroderma pigmentosum NGS panel. By Connective Tissue Gene Tests (United States). XPA, XPC, DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH Specificity 12 % Genes 100 %
Xeroderma pigmentosum Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). XPA, XPC, DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH Specificity 12 % Genes 100 %
Cerebrooculofacioskeletal syndrome Comprehensive panel. By Connective Tissue Gene Tests (United States). ERCC1, ERCC2, ERCC5, ERCC6 Specificity 25 % Genes 100 %
Cerebrooculofacioskeletal syndrome NGS panel. By Connective Tissue Gene Tests (United States). ERCC1, ERCC2, ERCC5, ERCC6 Specificity 25 % Genes 100 %
Cerebrooculofacioskeletal syndrome Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). ERCC1, ERCC2, ERCC5, ERCC6 Specificity 25 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Genetic Syndrome Finder

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