Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints (Al-Hussain et al., 2004). It is classified as a form of Ehlers-Danlos syndrome (Malfait et al., 2017).
For a discussion of genetic heterogeneity of brittle cornea syndrome, see BCS1 (229200). [from OMIM]
- MedGen UID:
- 481641
- •Concept ID:
- C3280011
- •
- Disease or Syndrome