Congenital Horner syndrome
Synonyms: Congenital Claude-Bernard-Horner syndrome
- Type
- Disease
- Group
- Disorder
- Status
- active
Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital Horner syndrome | Congenital Claude-Bernard-Horner syndrome |
| fr | Syndrome de Horner congénital | Syndrome congénital de Claude-Bernard-Horner |
| de | Horner-Syndrom, kongenitales | Claude-Bernard-Horner-Syndrom, kongenitales |
| es | Síndrome de Horner congénito | Síndrome de Claude-Bernard-Horner congénito |
| it | Sindrome congenita di Horner | Sindrome congenita di Claude Bernard-Horner |
| nl | Congenitaal syndroom van Horner | Congenitaal syndroom van Claude-Bernard-Horner |
| pt | Síndrome Horner congénito | |
| pl | Wrodzony zespół Hornera | Wrodzony zespół Claude'a,Bernarda i Hornera |
| cs | Vrozený Hornerův syndrom | Vrozený Claudův-Bernardův-Hornerův syndrom · Vrozený Claude-Bernard-Hornerův syndrom |
| uk | Вроджений синдром Горнера | Вроджений синдром Клода-Бернара-Горнера |
| zh | 先天性霍纳综合征 | 先天性Claude-Bernard-Horner综合征 |
| tr | Doğumsal Horner sendromu | Doğumsal Claude-Bernard-Horner sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 143000 | E | validated | |
| ICD-10 | G90.2 | NTBT | attributed | validated |
| ICD-11 | 8D8A.1 | NTBT | index | validated |
| MONDO | 0007735 | E | validated | |
| MeSH | C564178 | E | validated | |
| UMLS | C1840475 | E | validated | |
| GARD | 6670 | E | validated | |
| MedDRA | 10074554 | 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:519286Rare disorder of the pupil
rare ophthalmic disorders - ORPHA:98578Rare disorder with ptosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:522568Rare genetic disorder of the pupil
rare genetic diseases
No children.
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/91413
- This record as JSON: /data/d/91413.json