HEC syndrome
Findings
No curated finding names HEC syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0010901), read 2026-09-29. CC BY 4.0.
Features
12 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Communicating hydrocephalusHPOHP:0001334
- Very frequent (80% to 99% of cases)
- Developmental cataractHPOHP:0000519
- Very frequent (80% to 99% of cases)
- Endocardial fibroelastosisHPOHP:0001706
- Very frequent (80% to 99% of cases)
- PolyhydramniosHPOHP:0001561
- Very frequent (80% to 99% of cases)
- Respiratory insufficiencyHPOHP:0002093
- Very frequent (80% to 99% of cases)
- Vaginal hydroceleHPOHP:0100673
- Very frequent (80% to 99% of cases)
- Abnormal pupil morphologyHPOHP:0000615
- Frequent (30% to 79% of cases)
- Abnormal retinal vascular morphologyHPOHP:0008046
- Frequent (30% to 79% of cases)
- Abnormality of the pharynxHPOHP:0000600
- Frequent (30% to 79% of cases)
- ArrhythmiaHPOHP:0011675
- Frequent (30% to 79% of cases)
- CardiomyopathyHPOHP:0001638
- Frequent (30% to 79% of cases)
- Premature birthHPOHP:0001622
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: HEC syndrome
- Also called
- hydrocephalus-endocardial fibroelastosis-cataract syndrome