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HEC syndrome

Disease definition

HEC syndrome is characterised by communicating hydrocephalus, endocardial fibroelastosis (EFE), and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The aetiology of the syndrome is unknown but a viral or genetic origin has been proposed.


  • Synonym(s):
    • Hydrocephalus-endocardial fibroelastosis-cataract syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 600559
  • UMLS: C1833607
  • MeSH: -
  • GARD: 2620
  • MedDRA: -
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