Last update 01 Nov 2024

Hydrocephalus, Endocardial Fibroelastosis, and Cataracts

Basic Info

Synonyms
Communicating hydrocephalus, endocardial fibroelastosis (EFE) and congenital cataracts, HEC (hydrocephalus, endocardial fibroelastosis, cataract) syndrome, HEC SYNDROME
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Introduction
Syndrome that is characterised by communicating hydrocephalus, endocardial fibroelastosis 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.

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