Conditions / Eye
brittle cornea syndrome 1
info · Eye
An Ehlers-Danlos syndrome that is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints and has_material_basis_in homozygous mutation in the ZNF469 gene on c
An Ehlers-Danlos syndrome that is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints and has_material_basis_in homozygous mutation in the ZNF469 gene on chromosome 16q24.
Signs and symptoms
- Epicanthus
- Visual loss
- Palmoplantar cutis laxa
- Congenital hip dislocation
- Spondylolisthesis
- Hearing impairment
- Keratoconus
- Scoliosis
- Joint hypermobility
- Red hair
Also known as: type VIB Ehlers-Danlos syndrome