ORPHA:228399
8q12 microduplication syndrome
Synonyms: Dup(8)(q12) · Trisomy 8q12
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 8q12 microduplication syndrome | Dup(8)(q12) · Trisomy 8q12 |
| fr | Syndrome de microduplication 8q12 | Dup(8)(q12) · Trisomie 8q12 |
| de | Mikroduplikationssyndrom 8q12 | |
| es | Síndrome de microduplicación 8q12 | Dup(8)(q12) · Trisomía 8q12 |
| it | Sindrome da microduplicazione 8q12 | Dup(8)(q12) · Trisomia 8q12 |
| nl | 8q12-microduplicatiesyndroom | Dup(8)(q12) · Trisomie 8q12 |
| pt | Síndrome de microdeleção 8q12 | |
| pl | Zespół mikroduplikacji 8q12 | Dup(8)(q12) · Trisomia 8q12 |
| cs | Mikroduplikační syndrom 8q12 | Dup(8)(q12) · Trizomie 8q12 |
| uk | Синдром мікродуплікації 8q12 | Dup(8)(q12) · Трисомія 8q12 |
| zh | 8q12微重复综合征 | 8q12三体 |
| tr | 8q12 mikroduplikasyon sendromu | Dup (8) (q12) · Trizomi 8q12 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| ICD-11 | LD41.70 | NTBT | index | validated |
| MONDO | 0016458 | E | validated | |
| UMLS | C4304504 | E | validated | |
| GARD | 12816 | 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 (3):
- ORPHA:262896Partial duplication of the long arm of chromosome 8 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
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 | 4 cases | Worldwide | Case(s) | Validated | 22902603[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
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HPO phenotypes
20 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009921 | Duane anomaly | |
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0000637 | Long palpebral fissure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0001629 | Ventricular septal defect | |
| Frequent (79-30%) | ||
| HP:0001291 | Abnormal cranial nerve morphology | |
| HP:0001631 | Atrial septal defect | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000248 | Brachycephaly | |
| HP:0000286 | Epicanthus | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000343 | Long philtrum | |
| HP:0000160 | Narrow mouth | |
| HP:0001773 | Short foot | |
| HP:0000506 | Telecanthus | |
| HP:0000076 | Vesicoureteral reflux | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 6 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/228399
- This record as JSON: /data/d/228399.json