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Brittle cornea syndrome 1 [Supplementary Concept]

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 introduced: August 25, 2010

MeSH Unique ID: C536192

Heading Mapped to:

Entry Terms:

  • Fragilitas oculi with joint hyperextensibility
  • Dysgenesis Mesodermalis Corneae et Sclerae
  • Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility
  • Ehlers-Danlos Syndrome, Type VIB
  • Ehlers-Danlos syndrome 6B
  • Brittle cornea syndrome

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