Brittle cornea syndrome
Other Names for this Disease
- EDS VIB (formerly)
- Ehlers-Danlos syndrome type 6B (formerly)
- Fragilitas oculi with joint hyperextensibility
- Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility
- Dysgenesis mesodermalis corneae et sclerae
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connective tissue disorder that mainly affects the eyes, joints and skin. Signs and symptoms may include rupture of the cornea after only minor trauma; degeneration of the cornea (keratoconus) or thinning and protrusion of the cornea (keratoglobus); bluish tint in the white part of the eyes (blue sclerae); hypermobile joints; hyperelastic skin; hearing defects; and dental abnormalities. There are 2 types of BCS which are distinguished by the mutated gene that causes the condition. BCS type 1 is caused by mutations in the ZNF469 gene and BCS type 2 is caused by mutations in the PRDM5 gene. BCS is inherited in an autosomal recessive manner.Brittle cornea syndrome (BCS) is a type of
Last updated: 2/17/2012
- Al-Hussain H, Zeisberger SM, Huber PR, Giunta C, Steinmann B. Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers–Danlos syndrome (EDS VI): Report on 23 patients and review of the literature. Am J Med Genet A. January 1, 2004; 124A(1):28-34.
- Anne E. Christensen et al. Brittle Cornea Syndrome Associated with a Missense Mutation in the Zinc-Finger 469 Gene. Invest. Ophthalmol. Vis. Sci. January 2010; 51(1):47-52. http://www.iovs.org/content/51/1/47.full. Accessed 2/17/2012.
- Marla J. F. O'Neill. BRITTLE CORNEA SYNDROME 1; BCS1. OMIM. August 12, 2011; http://omim.org/entry/229200. Accessed 2/17/2012.
- Marla J. F. O'Neill. BRITTLE CORNEA SYNDROME 2; BCS2. OMIM. August 17, 2011; http://omim.org/entry/614170. Accessed 2/17/2012.
On this page
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Brittle cornea syndrome 1
Brittle cornea syndrome 2
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Brittle cornea syndrome. Click on the link to view a sample search on this topic.