MeSH Browser

MeSH Supplementary: Brittle cornea syndrome 1
Unique ID: C536192
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536192
Entry Term(s): Brittle cornea syndrome; Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility; Dysgenesis Mesodermalis Corneae et Sclerae; Ehlers-Danlos Syndrome, Type VIB; Ehlers-Danlos syndrome 6B; Fragilitas oculi with joint hyperextensibility
Registry Number: 0
Previous Indexing: *EHLERS-DANLOS SYNDROME (2010-2015)
Heading Mapped to: *Eye Abnormalities; Joint Instability / *congenital; *Skin Abnormalities
Frequency: 32
Note: A hereditary autosomal recessive disorder characterized by by blue SCLERA, corneal rupture after minor trauma, KERATOCONUS or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints. Mutations in the ZNF469 gene have been identified. OMIM: 229200.
Date of Entry: 2010/08/25
Revision Date: 2016/07/07

Brittle cornea syndrome 1 MeSH Supplementary Concept Data 2024