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brittle cornea syndrome
Genetics:
- associated with defects in PRDM5 (type 2)
Clinical manifestations:
type 2
- extreme corneal thinning resulting in corneal rupture after minor trauma
- blue sclerae
- keratoconus or keratoglobus
- hyperelasticity of the skin
- hypermobile joints
General
corneal disease (keratopathy)
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 614170
References
OMIM :accession 614170