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GTR Home > Conditions/Phenotypes > Brittle cornea syndrome 1

Brittle cornea syndrome 1

Synonyms
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility; Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility; DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE; EDS VIB (formerly); EDS6B; Ehlers-Danlos syndrome type 6B (formerly); Fragilitas oculi with joint hyperextensibility

Summary

Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints (Al-Hussain et al., 2004). It is classified as a form of Ehlers-Danlos syndrome (Malfait et al., 2017). Genetic Heterogeneity of Brittle Cornea Syndrome Brittle cornea syndrome-2 (BCS2; 614170) is caused by mutation in the PRDM5 gene (614161) on chromosome 4q27. [from OMIM]

Available tests

62 tests are in the database for this condition.

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Clinical tests (62 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BCS, BCS1, Zfp469, ZNF469
    Summary: zinc finger protein 469

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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