HEC syndrome
historical
Synonyms: Hydrocephalus-endocardial fibroelastosis-cataract syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Neonatal
- Status
- historical
A rare syndromic cardiac disease characterized by communicating hydrocephalus, endocardial fibroelastosis, and congenital cataracts. A history of upper respiratory infection in the mother during the first trimester of pregnancy and polyhydramnios in the third trimester has been associated. No evidence of toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, syphilis, and galactosemia is reported. There have been no further descriptions in the literature since 1995.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | HEC syndrome | Hydrocephalus-endocardial fibroelastosis-cataract syndrome |
| fr | Syndrome HEC | Syndrome d'hydrocéphalie-fibroélastoses-cataracte |
| de | HEC-Syndrom | Hydrozephalus-endokardiale Fibroelastose-Katarakt-Syndrom |
| es | Síndrome HEC | Hidrocefalia-fibroelastosis-cataratas |
| it | Sindrome HEC | Idrocefalo - fibroelastosi - cataratta |
| nl | HEC-syndroom | Hydrocefalus - endocardiale fibro-elastose - cataract-syndroom |
| pt | Síndrome HEC | Síndrome de hidrocefalia-fibroelastose endocárdica-cataratas |
| pl | Zespół HEC | Wodogłowie - fibroelastoza endokardialna - zaćma |
| cs | HEC syndrom | Syndrom zahrnující hydrocefalus, endokardiální fibroelastózu a katarakta |
| uk | HEC синдром | Синдром гідроцефалії-ендокардіального фіброеластозу-катарактичного синдрому |
| zh | HEC综合征 | 脑积水-心内膜弹力纤维增生症-白内障综合征 |
| tr | HEC sendromu | Hidrosefali-endokardiyal fibroelastoz-katarakt sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600559 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | BC43.3 | NTBT | attributed | validated |
| MONDO | 0010901 | E | validated | |
| MeSH | C535855 | E | validated | |
| UMLS | C1833607 | E | validated | |
| GARD | 2620 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:217607Familial dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases - ORPHA:217635Familial restrictive cardiomyopathy
rare cardiac diseases; rare genetic diseases - ORPHA:324767Non-familial rare disease with dilated cardiomyopathy
rare cardiac diseases; rare transplant-related disorders - ORPHA:217720Non-familial restrictive cardiomyopathy
rare cardiac diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 7747788[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7747788[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001334 | Communicating hydrocephalus | |
| HP:0000519 | Developmental cataract | |
| HP:0001706 | Endocardial fibroelastosis | |
| HP:0001561 | Polyhydramnios | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0100673 | Vaginal hydrocele | |
| Frequent (79-30%) | ||
| HP:0000615 | Abnormal pupil morphology | |
| HP:0008046 | Abnormal retinal vascular morphology | |
| HP:0000600 | Abnormality of the pharynx | |
| HP:0011675 | Arrhythmia | |
| HP:0001638 | Cardiomyopathy | |
| HP:0001622 | Premature birth | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2119
- This record as JSON: /data/d/2119.json