ORPHA:2536
Microcornea-glaucoma-absent frontal sinuses syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- historical
A rare developmental defect during embryogenesis syndrome characterized by the association of microcornea, glaucoma and frontal sinus hypoplasia. Thick palmar skin and torus palatinus have also been reported. There have been no further descriptions in the literature since 1995.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcornea-glaucoma-absent frontal sinuses syndrome | |
| fr | Syndrome de microcornée-glaucome-absence de sinus frontaux | |
| de | Mikrokornea-Glaukom-fehlende Stirnhöhlen-Syndrom | |
| es | Síndrome de microcórnea-glaucoma-ausencia de senos frontales | |
| it | Sindrome da microcornea-glaucoma-assenza dei seni frontali | |
| nl | Microcornea - glaucoom - afwezige frontale sinussen-syndroom | |
| pt | Síndrome de microcórnea-glaucoma-seios frontais ausentes | |
| pl | Rogówka mała - jaskra - brak zatok czołowych | |
| cs | Syndrom zahrnující mikrokorneu, glaukom a chybějící frontální sinus | |
| uk | Синдром мікрокорнеа-глаукоми-відсутності лобових пазух | |
| zh | 小角膜-青光眼-额窦缺失综合征 | |
| tr | Mikrokornea-glokom-frontal sinüs eksikliği sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 156700 | E | validated | |
| ICD-10 | Q15.8 | NTBT | attributed | validated |
| MONDO | 0007992 | E | validated | |
| MeSH | C537552 | E | validated | |
| UMLS | C4274800 | E | validated | |
| GARD | 3637 | 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 (1):
- ORPHA:98638Rare disease with glaucoma 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 | 5 cases | Worldwide | Case(s) | Validated | 5781804[PMID]_7636671[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_5781804[PMID]_7636671[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
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000929 | Abnormal skull morphology | |
| HP:0002688 | Absent frontal sinuses | |
| HP:0000501 | Glaucoma | |
| HP:0000482 | Microcornea | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0100789 | Torus palatinus | |
| Frequent (79-30%) | ||
| HP:0000286 | Epicanthus | |
| HP:0012368 | Flat face | |
| HP:0000311 | Round face | |
| HP:0000505 | Visual impairment | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2536
- This record as JSON: /data/d/2536.json