Epilepsy-telangiectasia syndrome
historical
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- historical
A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). There have been no further descriptions in the literature since 1978.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Epilepsy-telangiectasia syndrome | |
| fr | Syndrome d'épilepsie-télangiectasie | |
| de | Epilepsie-Teleangiektasie-Syndrom | |
| es | Síndrome de epilepsia-telangiectasia | |
| it | Sindrome da epilessia-telangectasia | |
| nl | Epilepsie - teleangiëctasie-syndroom | |
| pt | Síndrome de epilepsia-telangiectasia | |
| pl | Zespół padaczki i telangiektazji | |
| cs | Epilepsie - teleangiektázie | |
| uk | Синдром епілепсії-телеангіектазії | |
| zh | 癫痫-毛细血管扩张综合征 | |
| tr | Epilepsi-telenjiektazi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 226850 | E | validated | |
| ICD-10 | G40.8 | NTBT | attributed | validated |
| MONDO | 0009188 | E | validated | |
| MeSH | C535497 | E | validated | |
| UMLS | C4518554 | E | validated | |
| GARD | 2168 | 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 (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological 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 | 6 cases | Worldwide | Case(s) | Validated | 627106[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_627106[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
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0000524 | Conjunctival telangiectasia | |
| HP:0002720 | Decreased circulating IgA level | |
| HP:0004313 | Decreased circulating antibody level | |
| HP:0001249 | Intellectual disability | |
| HP:0000343 | Long philtrum | |
| HP:0001250 | Seizure | |
| HP:0009237 | Short 5th finger | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0000164 | Abnormality of the dentition | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1951
- This record as JSON: /data/d/1951.json