Unilateral ocular duplication
Synonyms: Triophthalmia · Triopia · Unilateral diplophthalmia · Unilateral diplophthalmos
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare developmental defect during embryogenesis characterized by unilateral duplication of an eye which may appear as a synophthalmic eye in a single orbit or as two separate unilateral eyes, each in a separate orbit. The malformation is always associated with other anomalies of the central nervous system (such as porencephaly, meningocele, or arachnoidal cysts) and with craniofacial abnormalities. A proboscis is often found. Clinically, moderate intellectual disability and epilepsy are typical.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Unilateral ocular duplication | Triophthalmia · Triopia · Unilateral diplophthalmia · Unilateral diplophthalmos |
| fr | Triopie | Diplophtalmie unilatérale · Duplication oculaire unilatérale · Triophtalmie |
| de | Unilaterale okuläre Duplikation | Diplophthalmie, unilaterale · Triophthalmie · Triopie |
| es | Duplicación ocular unilateral | Trioftalmia · Triopía |
| it | Duplicazione oculare monolaterale | Diploftalmia monolaterale · Diploftalmo monolaterale · Trioftalmia · Triopia |
| nl | Unilaterale oculaire duplicatie | Trioftalmie · Triopie · Unilaterale diploftalmie · Unilaterale diplophthalmos |
| pt | Duplicação ocular unilateral | Diploftlamia unilateral · Diploftlamos unilateral · Trioftalmia · Triopia |
| pl | Triopia | Jednostronne zdwojenie oka |
| cs | Triopie | = en |
| uk | Одностороння окулодуплікація | Триофтальмія · Тріопія · Одностороння диплофтальмія · Односторонній диплофтальм |
| zh | 斜视 | |
| tr | Triopia |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q15.8 | NTBT | attributed | validated |
| ICD-11 | LA10.Y | NTBT | attributed | validated |
| MONDO | 0031322 | E | validated | |
| MONDO | 31322 | E | validated | |
| UMLS | C5816687 | E | validated | |
| GARD | 5286 | 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:519286Rare disorder of the pupil
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
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17558850[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
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000534 | Abnormal eyebrow morphology | |
| HP:0000615 | Abnormal pupil morphology | |
| HP:0000235 | Abnormality of the fontanelles or cranial sutures | |
| HP:0000951 | Abnormality of the skin | |
| HP:0000581 | Blepharophimosis | |
| HP:0000175 | Cleft palate | |
| HP:0000268 | Dolichocephaly | |
| HP:0002084 | Encephalocele | |
| HP:0000324 | Facial asymmetry | |
| HP:0002007 | Frontal bossing | |
| HP:0000316 | Hypertelorism | |
| HP:0000612 | Iris coloboma | |
| HP:0001601 | Laryngomalacia | |
| HP:0000256 | Macrocephaly | |
| HP:0000161 | Median cleft lip | |
| HP:0000482 | Microcornea | |
| HP:0100629 | Midline facial cleft | |
| HP:0001561 | Polyhydramnios | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3374
- This record as JSON: /data/d/3374.json