Cerebrooculofacioskeletal Syndrome 3; Cofs3

Description

Cerebrooculofacioskeletal syndrome is a severe, progressive neurologic disorder characterized by prenatal onset of arthrogryposis, microcephaly, and growth failure. Postnatal features include severe developmental delay, congenital cataracts (in some), and marked UV sensitivity of the skin. Survival beyond 6 years of age is rare. COFS represents the severe end of the spectrum of disorders caused by mutations in nucleotide excision repair (NER) genes, with Cockayne syndrome and xeroderma pigmentosum being milder NER-related phenotypes (summary by Drury et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see COFS1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Cerebrooculofacioskeletal Syndrome 3; Cofs3

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia
  • Cleft palate
  • Cataract
  • Low-set ears
  • Flexion contracture
  • Intrauterine growth retardation
  • Talipes equinovarus

And another 10 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.


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Cerebrooculofacioskeletal Syndrome 3; Cofs3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
CHOP Comprehensive Hereditary Cancer Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

RMRP, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, SH2D1A, SLC25A13, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, BUB1B, EPCAM, XPA, IKZF1, CBL , (...)

View the complete list with 85 more genes
Specificity
1 %
Genes
100 %
OncoRisk Plus (NGS panel for 89 genes).

By CGC Genetics (Portugal).

RUNX1, BLM, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCB1, STK11, BUB1B, EPCAM, TP53, TSC1, TSC2, VHL, WRN, WT1, XPA, XPC , (...)

View the complete list with 68 more genes
Specificity
2 %
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 via ERCC5 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ERCC5
Specificity
100 %
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 %

We have 45 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM MESH Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII; HMN8 GLYCEROL KINASE DEFICIENCY; GKD DIAMOND-BLACKFAN ANEMIA 4; DBA4 GERODERMA OSTEODYSPLASTICUM; GO WARBURG MICRO SYNDROME 1; WARBM1 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih; CDG1H CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O; CMT2O

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