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GENATLAS PHENOTYPE
last update : 28-08-2010
Symbol BCS
Location 16q24.2
HGNC id 23216
Name Brittle cornea syndrome
Other name(s)
  • Ehlers-Danlos syndrome type VIB
  • fragilitas oculi with joint hyperextensibility
    • Corresponding gene ZNF469
    Other symbol(s) EDS6B, EDS VIB
    Main clinical features
  • thin cornea that tends to perforate, causing progressive visual loss and blindness associated to joint hypermotility, hyperlaxity of the skin, and kyphoscoliosis
  • blindness can due to retinal detachment and secondary glaucoma (Christensen et al, 2010)
    • Genetic determination autosomal recessive
    Function/system disorder
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   unknown  
    deletion   truncated protein  
    Remark(s) additional systemic symptoms such as joint hypermotility, hyperlaxity of the skin, and kyphoscoliosis