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Brittle cornea syndrome

Disease definition

Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.

ORPHA:90354

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q79.6
  • OMIM: 229200  614170
  • UMLS: C0268344
  • MeSH: -
  • GARD: 1019
  • MedDRA: -

Detailed information

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