/brittle cornea syndrome

brittle cornea syndrome

Rare Disease

MONDO:0009242

Also Known As

brittle cornea syndromebrittle cornea syndrome type 1kyphoscoliosis typetype VIB Ehlers-Danlos syndromebrittle cornea syndrome 2BCS1EDS VIB (formerly)Ehlers-Danlos syndrome type 6B (formerly)Ehlers-Danlos syndrome type 6bbrittle cornea syndrome 1

Definition

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.