Brittle cornea syndrome

MONDO:0009242

Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.

Also known as: brittle cornea syndrome, brittle cornea syndrome type 1, kyphoscoliosis type, brittle cornea syndrome 2, BCS1, EDS VIB (formerly), Ehlers-Danlos syndrome type 6B (formerly), Ehlers-Danlos syndrome type 6b

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