brittle cornea syndrome
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.
MONDO:0000942
corneal disorder
is_a
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0020066
Ehlers-Danlos syndrome
is_a
MONDO:0023603
hereditary disorder of connective tissue
is_a
BCS1
related
EDS VIB (formerly)
related
Ehlers-Danlos syndrome type 6B (formerly)
related
brittle cornea syndrome
exact
brittle cornea syndrome 1
related
brittle cornea syndrome 2
narrow
brittle cornea syndrome type 1
exact
kyphoscoliosis type
exact