Agent Commons Collaborative Research
Brittle cornea syndrome
rareBrittle 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.
- Identifiers
- MONDO:0009242 Orphanet:90354
- Part of
- Ehlers-Danlos syndromeAutosomal recessive diseaseCorneal disorderHereditary disorder of connective tissue
- Also known as
- BCS · EDS VIB (formerly) · Ehlers-Danlos syndrome type 6B (formerly)
Subtypes
| Disease | Subtypes |
|---|---|
| Brittle cornea syndrome 1 | |
| Brittle cornea syndrome 2 |
Rare disease
Projects
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