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HEC syndrome

Disease Summary
Associated Targets ()

Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0010901:  HEC syndrome
GARD:0002620: 
MESH:C535855: 
Orphanet:2119: 
SCTID:721015008: 
UMLS:C1833607: