Congenital ectropion uveae
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital ectropion uveae | |
| fr | Ectropion congénital de l'épithélium pigmenté de l'iris | |
| de | Ektropion uveae, kongenitales | |
| es | Ectropión uveal congénito | |
| it | Ectropion congenito dell'uvea | |
| nl | Congenitale ectropion uveae | |
| pt | Ectropion uveae congénito | |
| pl | Wrodzone wywinięcie listka barwnikowego tęczówki | |
| cs | Vrozené ektropion živnatky/uvey | |
| uk | Вроджений ектропіон повік | |
| zh | 先天性葡萄膜外翻 | |
| tr | Doğumsal ektropiyon uvea |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q13.8 | NTBT | attributed | validated |
| ICD-11 | LA14.03 | NTBT | specific | validated |
| MONDO | 0019630 | E | validated | |
| UMLS | C1303012 | 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:98634Anterior segment developmental anomaly without extraocular manifestations
rare developmental anomalies during embryogenesis; 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 | 50 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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/91491
- This record as JSON: /data/d/91491.json