Euryblepharon
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Neonatal
- Status
- active
Euryblepharon is a rare congenital eyelid anomaly of unknown etiology characterized by the bilateral horizontal enlargement of the palpebral fissure with vertically shortened eyelids, lateral canthus malpositioning and lateral ectropion. It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Euryblepharon | |
| fr | Euryblépharon | |
| de | Euryblepharon | |
| es | Euriblefaron | |
| it | Euriblefaron | |
| nl | Euryblefaron | |
| pt | Euriblefaron | |
| pl | Euryblefaron - poszerzenie szpary powiekowej | |
| cs | Euryblefaron | |
| uk | Евриблефарон | |
| zh | 睑裂过宽 | |
| tr | Öriblefaron |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q10.1 | NTBT | attributed | validated |
| ICD-11 | LA14.0Y | NTBT | index | validated |
| MONDO | 0020464 | E | validated | |
| UMLS | C1303001 | 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 (2):
- ORPHA:98567Rare eyelid malposition disorder
rare developmental anomalies during embryogenesis; rare ophthalmic disorders - ORPHA:522528Rare genetic eyelid malposition disorder
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/99172
- This record as JSON: /data/d/99172.json