Brittle cornea syndrome 1

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.

Also Known As:

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

Eye Diseases: 3522
- Eye Abnormalities: 95
  - Brittle cornea syndrome 1: 11
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Skin Abnormalities: 159
    - Brittle cornea syndrome 1: 11
  - Eye Abnormalities: 95
    - Brittle cornea syndrome 1: 11
Musculoskeletal Diseases: 719
- Joint Diseases: 6509
  - Joint Instability: 584
    - Brittle cornea syndrome 1: 11
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Skin Abnormalities: 159
    - Brittle cornea syndrome 1: 11

Y Shapiro Selected Research

Y Shapiro Research Topics

Disease

Drug/Important Bio-Agent (IBA)