Congenital trochlear nerve palsy
Synonyms: Congenital CNIV palsy · Congenital fourth cranial nerve palsy · Congenital superior oblique palsy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
A rare ophthalmic disorder with cranial nerve involvement characterized by dysfunction of the superior oblique muscle with typical eye motility patterns including elevation in adduction, V-pattern related to reduced abduction force in downgaze with unopposed adduction by the inferior rectus muscle, and excyclotorsion. Patients may present with contralateral head tilt to compensate for vertical binocular misalignment and diplopia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital trochlear nerve palsy | Congenital CNIV palsy · Congenital fourth cranial nerve palsy · Congenital superior oblique palsy |
| fr | Paralysie congénitale du nerf trochléaire | Paralysie CNIV congénitale · Paralysie congénitale de l'oblique supérieure · Paralysie congénitale du quatrième nerf crânien |
| de | Trochlearislähmung, kongenitale | Hirnnerv IV-Lähmung, kongenitale · Kongenitale Lähmung des Musculus obliquus superior · Kongenitale Lähmung des Nervus trochlearis · Kongenitale Parese des vierten Hirnnerven |
| es | Parálisis congénita del nervio troclear | Parálisis CNIV congénita · Parálisis congénita del cuarto nervio craneal · Parálisis congénita del cuarto par craneal · Parálisis congénita del oblicuo superior |
| it | Paralisi congenita del nervo trocleare | Paralisi congenita del CNIV · Paralisi congenita del quarto nervo cranico |
| nl | Congenitale paralyse van nervus trochlearis | Congenitale verlamming van bovenste schuine oogspier · Congenitale verlamming van katrolzenuw · Congenitale verlamming van vierde hersenzenuw · Congenitale CNIV-verlamming · Congenitale paralyse van musculus obliquus superior |
| pt | Paralisia do nervo troclear congénita | Paralisia CNIV congénita · Paralisia do oblíquo superior congénita · Paralisia do quarto nervo cranial congénita |
| pl | Wrodzone porażenie nerwu bloczkowego | Wrodzone porażenie CNIV · Wrodzone porażenie czwartego nerwu czaszkowego |
| cs | Vrozená obrna trochleárního nervu | Vrozená CNIV obrna · Vrozená obrna čtvrtého hlavového nervu |
| uk | Вроджений параліч блоковидного нерва | Вроджений CNIV параліч · Вроджений параліч четвертого черепно-мозкового нерва · Вроджений верхній косий параліч |
| zh | 先天性滑车神经麻痹 | 先天性第四颅神经麻痹 |
| tr | Doğumsal troklear sinir felci | Doğumsal CNIV felci · Doğumsal süperior oblik felç · Doğumsal dördüncü kraniyal sinir felci |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | H49.1 | NTBT | attributed | validated |
| ICD-11 | 9C81.1 | NTBT | index | validated |
| MONDO | 0020256 | E | validated | |
| UMLS | C5680340 | 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.
Codes that Orphanet moved or referred to this one:
- ORPHA:99664OBSOLETE: Trochlear nerve palsy referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98686
- This record as JSON: /data/d/98686.json