ORPHA:139450
Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
Synonyms: Balikova-Vermeesch syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- No data available
- Status
- active
This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome | Balikova-Vermeesch syndrome |
| fr | Syndrome de microtie-colobome oculaire-imperforation du canal lacrymonasal | Syndrome de Balikova-Vermeesch |
| de | Mikrotie-Augenkolobom-imperforierter nasolakrimaler Gang-Syndrom | Balikova-Vermeesch-Syndrom |
| es | Síndrome de microtia-coloboma del ojo-imperforación del conducto nasolagrimal | Síndrome de Balikova-Vermeesch |
| it | Sindrome microtia-coloboma oculare-imperforazione del dotto nasolacrimale | Sindrome di Balikova-Vermeesch |
| nl | Microtie - oogcoloboom - imperforatie van ductus nasolacrimalis-syndroom | Syndroom van Balikova-Vermeesch |
| pt | Microtia - coloboma ocular - ducto nasolacrimal imperfurado | Síndrome Balikova-Vermeesch |
| pl | Mikrocja - szczelina oka - niedrożność przewodu nosowo-łzowego | Zespół Balikova i Vermeescha |
| cs | Syndrom zahrnující mikrocii, oční kolobom a imperforovaný nazolakrimální vývod | Balikové-Vermeeschův syndrom · Balikova-Vermeeschův syndrom |
| uk | Синдром мікротії-колобоми ока-перфорації носослізної протоки | Синдром Балікова-Вермеша |
| zh | 小耳畸形-眼缺损-鼻泪管闭锁综合征 | Balikova-Vermeesch综合征 |
| tr | Mikrotia-göz kolobomu-nazolakrimal kanal sendromunun imperforasyonu | Balikova-Vermeesch sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611863 | E | validated | |
| ICD-10 | Q13.8 | NTBT | attributed | validated |
| MONDO | 0012739 | E | validated | |
| UMLS | C4518464 | E | validated | |
| GARD | 10300 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:519276Anterior segment developmental anomaly with extraocular manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:716299Rare disorder with non-progressive predominantly chorioretinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 18179897[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18179897[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.
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HPO phenotypes
4 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000564 | Lacrimal duct atresia | |
| HP:0008551 | Microtia | |
| Frequent (79-30%) | ||
| HP:0000612 | Iris coloboma | |
| HP:0000613 | Photophobia | |
Run the differential on the 2 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/139450
- This record as JSON: /data/d/139450.json