Familial congenital palsy of trochlear nerve
- Type
- Disease
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
A rare, genetic, neuro-ophthalmological disease characterized by congenital fourth cranial nerve palsy, manifesting with hypertropia in side gaze, unexplained head tilt, acquired vertical diplopia, and progressive increase in vertical fusional vergence amplitudes with prolonged occlusion. Facial asymmetry (i.e. hemifacial retrusion, upward slanting of mouth on the side of the head tilt, mild enophthalmos of paretic eye) and superior oblique tendon abnormalities (such as absence, redundance, misdirection) are frequently associated. Some asymptomatic cases have been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial congenital palsy of trochlear nerve | |
| fr | Paralysie congénitale familiale du nerf trochléaire | |
| de | Trochlearislähmung, kongenitale, familiäre Form | |
| es | Parálisis congénita del nervio troclear, forma familiar | |
| it | Paralisi congenita del nervo trocleare, forma familiare | |
| nl | Familiale congenitale paralyse van nervus trochlearis | |
| pt | Paralisia do nervo troclear congénita familiar | |
| pl | Rodzinne wrodzone porażenie nerwu bloczkowego | |
| cs | Familiární vrozená obrna trochleárního nervu | |
| uk | Сімейний вроджений параліч блокового нерва | |
| zh | 家族性先天性滑车神经麻痹 | |
| tr | Troklear sinirin ailesel doğumsal felci |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 136480 | E | validated | |
| ICD-10 | H49.1 | NTBT | attributed | validated |
| ICD-11 | 9C81.1 | NTBT | attributed | validated |
| MONDO | 0007626 | E | validated | |
| MeSH | C565007 | E | validated | |
| UMLS | C1850996 | 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 (1):
- ORPHA:519353Rare trochlear nerve disorder
rare genetic diseases; rare ophthalmic disorders
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 | 3985833[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3985833[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/91498
- This record as JSON: /data/d/91498.json