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EDICT syndrome

Disease definition

EDICT (endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning) syndrome is a very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia.

ORPHA:293936

  • Synonym(s):
    • Autosomal dominant keratoconus with early-onset anterior polar cataracts
    • Endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome
    • Familial keratoconus with cataract
    • KTCNCT
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal, Infancy, Childhood
  • ICD-10: -
  • OMIM: 614303
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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