HEC syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Hydrocephalus-endocardial fibroelastosis-cataract
Number of Symptoms 13
OrphanetNr: 2119
OMIM Id: 600559
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases - PMID: 7747788 [IBIS]
Inheritance:
Age of onset: Neonatal
- PMID: 7747788 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Dilated cardiomyopathy
 -Rare cardiac disease
Restrictive cardiomyopathy
 -Rare cardiac disease

Comment:

HEC (hydrocephalus, endocardia1 fibroelastosis, cataract) syndrome was reported two unrelated infants, conceived within 2 months and 10 miles of each other, with similar findings of communicating hydrocephalus, endocardia1 fibroelastosis, and congenital cataracts who died at four and a half months of postnatal age (PMID:7747788).

Symptom Information: Sort by abundance 

1
 (HPO:0000045) Abnormality of the scrotum Very frequent [Orphanet] 7747788 IBIS 14 / 7739
2
 (HPO:0000600) Abnormality of the pharynx Frequent [Orphanet] 7747788 IBIS 22 / 7739
3
 (HPO:0008046) Abnormality of the retinal vasculature Frequent [Orphanet] 7747788 IBIS 41 / 7739
4
 (HPO:0000519) Congenital cataract 7747788 IBIS 73 / 7739
5
 (HPO:0000615) Abnormality of the pupil Frequent [Orphanet] 7747788 IBIS 39 / 7739
6
 (HPO:0001561) Polyhydramnios Very frequent [Orphanet] 7747788 IBIS 191 / 7739
7
 (HPO:0001622) Premature birth Frequent [Orphanet] 7747788 IBIS 100 / 7739
8
 (HPO:0011025) Abnormality of cardiovascular system physiology Frequent [Orphanet] 7747788 IBIS 41 / 7739
9
 (HPO:0001706) Endocardial fibroelastosis 7747788 IBIS 20 / 7739
10
 (HPO:0004306) Abnormality of the endocardium Very frequent [Orphanet] 7747788 IBIS 24 / 7739
11
 (HPO:0001638) Cardiomyopathy Frequent [Orphanet] 7747788 IBIS 192 / 7739
12
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 7747788 IBIS 410 / 7739
13
 (HPO:0001334) Communicating hydrocephalus Very frequent [Orphanet] 7747788 IBIS 32 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: