Congenital trigeminal anesthesia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital trigeminal anesthesia | |
| fr | Anesthésie congénitale du nerf trijumeau | |
| de | Trigeminusanästhesie, kongenitale | Kongenitale trigeminale Anästhesie |
| es | Anestesia congénita del nervio trigémino | |
| it | Anestesia congenita del nervo trigemino | |
| nl | Congenitale anesthesie van nervus trigeminus | Aangeboren gevoelloosheid van drielingzenuw |
| pt | Anestesia trigeminal congénita | |
| pl | Wrodzone znieczulenie nerwu trójdzielnego | |
| cs | Vrozená trigeminová anestezie | |
| uk | Вроджена анестезія трійчастого нерва | |
| zh | 先天性三叉神经麻痹 | |
| tr | Doğumsal trigeminal anestezi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 122450 | E | validated | |
| ICD-10 | G50.8 | NTBT | attributed | validated |
| MONDO | 0007384 | E | validated | |
| MeSH | C536440 | E | validated | |
| UMLS | C1852541 | E | validated | |
| GARD | 10034 | E | validated | |
| MedDRA | 10088099 | 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:98497Genetic peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:522510Rare genetic ophthalmic disorder with cranial nerve involvement
rare genetic diseases - ORPHA:519349Rare ophthalmic disorder with cranial nerve involvement
rare ophthalmic disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/231013
- This record as JSON: /data/d/231013.json