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GTR Home > Conditions/Phenotypes > Cerebrooculofacioskeletal syndrome 3

Cerebrooculofacioskeletal syndrome 3

Summary

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 (214150). [from OMIM]

Available tests

16 tests are in the database for this condition.

Clinical tests (16 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: COFS3, ERCC5-201, ERCM2, UVDR, XPG, XPGC, ERCC5
    Summary: ERCC excision repair 5, endonuclease

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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