syndromic disease
HEC syndrome
https://rarediseases.info.nih.gov/diseases/2620/hec-syndrome
hydrocephalus-endocardial fibroelastosis-cataract syndrome
Orphanet:2119
MESH:C535855
GARD:2620
OMIM:600559
communicating hydrocephalus, endocardial fibroelastosis (EFE) and congenital cataracts
MONDO:0010901
Editor note: Orphanet classifies as both familial and non-familial, dilated and restrictive cardiomyopathy
hydrocephalus, endocardial fibroelastosis, and cataracts
UMLS:C1833607
SCTID:721015008
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.
HEC syndrome