HEC syndrome
HEC syndrome
Definition
HEC 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.
Also known as HEC syndrome, hydrocephalus-endocardial fibroelastosis-cataract syndrome — per MONDO