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HEC syndrome
rareHEC syndrome is characterized 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 etiology of the syndrome is unknown but a viral or genetic origin has been proposed.
- Identifiers
- MONDO:0010901 OMIM:600559Orphanet:2119
- Part of
- Syndromic disease
- Also known as
- communicating hydrocephalus, endocardial fibroelastosis (EFE) and congenital cataracts · hydrocephalus-endocardial fibroelastosis-cataract syndrome
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