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Brittle cornea syndrome
Disease definition
A rare, hereditary connective tissue disease characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, often leading to irreversible blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.
ORPHA:90354
Classification level: DisorderDetailed information
Article for general public
Professionals
- Anesthesia guidelines
- Czech (2019)
- Deutsch (2019)
- English (2019)
- Español (2019)
- Clinical practice guidelines
- English (2018)
- Français (2020)
Additional information
Further information on this disease
Patient-centred resources for this disease
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Specialised Social Services
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