Brittle cornea syndrome

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Brittle cornea syndrome

Synonyms: Ehlers-Danlos syndrome type 6B

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Brittle cornea syndrome?

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Advocacy Organizations

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To bring Charity, Access, Research, and Education (CARE) through and beyond the rare disease, disabled, and medically complex communities for a more inclusive and accessible medical system.

Clinical Trials

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