Microphthalmia-ankyloblepharon-intellectual disability syndrome
Synonyms: MCOPS4 · Syndromic microphthalmia type 4
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microphthalmia-ankyloblepharon-intellectual disability syndrome | MCOPS4 · Syndromic microphthalmia type 4 |
| fr | Syndrome de microphtalmie-ankyloblépharon-déficience intellectuelle | MCOPS4 · Microphtalmie syndromique type 4 |
| de | Mikrophthalmie-Ankyloblepharon-Intelligenzminderung-Syndrom | MCOPS4 · Mikrophthalmie, syndromale, Typ 4 |
| es | Síndrome de microftalmia-anquilobléfaron-discapacidad intelectual | MCOPS4 · Microftalmia sindrómica tipo 4 |
| it | Sindrome microftalmia-anchiloblefaron-disabilità intellettiva | MCOPS4 · Microftalmia sindromica, tipo 4 |
| nl | Microftalmie - ankyloblefaron - intellectuele achterstand-syndroom | MCOPS4 · Syndromale microftalmie type 4 |
| pt | Síndrome de microftalmia-anquiloblefaron-perturbação do desenvolvimento intelectual | MCOPS4 · Microftlamia sindromática tipo 4 |
| pl | Małoocze - zrośnięcie brzegów powiek - niepełnosprawność intelektualna | MCOPS4 · Syndromiczne małoocze typu 4 |
| cs | Syndrom zahrnující mikroftalmii, ankyloblefaron a mentální retardaci | MCOPS4 · Syndromická mikroftalmie, typ 4 |
| uk | Синдром мікрофтальмії-анкілоблефарону-інтелектуальної недостатності | MCOPS4 · Синдромна мікрофтальмія типу 4 |
| zh | 小眼球-睑缘粘连-智力障碍综合征 | 综合征性小眼症4型 |
| tr | Mikroftalmi-ankiloblefaron-zihinsel yetersizlik sendromu | MCOPS4 · Sendromik mikroftalmi tip 4 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q11.2 | NTBT | attributed | validated |
| ICD-11 | LD21.0 | NTBT | index | validated |
| UMLS | C1844948 | E | validated | |
| GARD | 5066 | 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 (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:98565Syndromic ankyloblepharon filiforme adnatum
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:202948Syndromic microphthalmia-anophthalmia-coloboma
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
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
4 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009755 | Ankyloblepharon | |
| HP:0000528 | Anophthalmia | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000568 | Microphthalmia | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 1679229[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85275
- This record as JSON: /data/d/85275.json