Distal 7q11.23 microduplication syndrome
Synonyms: Distal trisomy 7q11.23 · Dup7q11.23D · Distal dup(7)(q11.23)
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal 7q11.23 microduplication syndrome | Distal trisomy 7q11.23 · Dup7q11.23D · Distal dup(7)(q11.23) |
| fr | Syndrome de microduplication 7q11.23 distale | Dup(7)(q11.23) distale · Dup7q11.23D · Trisomie 7q11.23 distale |
| de | Mikroduplikationssyndrom 7q11.23, distal | Distal dup(7)(q11.23) · Dup7q11.23D · Trisomie 7q11.23, distal |
| es | Síndrome de microduplicación terminal 7q11.23 | Dup(7)(q11.23) terminal · Dup7q11.23D · Trisomía terminal 7q11.23 |
| it | Sindrome da microduplicazione 7q11.23 distale | Dup(7)(q11.23) distale · Trisomia 7q11.23 distale |
| nl | Distale 7q11.23-microduplicatiesyndroom | Distale dup(7)(q11.23) · Distale trisomie 7q11.23 · Dup7q11.23D |
| pt | Síndrome de microduplicação distal 7q11.23 | Trisomia distal 7q11.23 |
| pl | Zespół mikroduplikacji dystalnej 7q11.23 | Dystalna dup(7)(q11.23) · Dystalna trisomia 7q11.23 |
| cs | Syndrom distální mikroduplikace 7q11.23 | Distální dup(7)(q11.23) · Distální trizomie 7q11.23 |
| uk | Синдром дистальної мікродуплікації 7q11.23 | Дистальна дуплікація (7)(q11.23) · Дистальна трисомія 7q11.23 · Dup7q11.23D |
| zh | 远端染色体7q11.23微重复综合征 | 7q11.23远端三体 |
| tr | Distal 7q11.23 mikroduplikasyon sendromu | Dup7q11.23D · Distal dup (7) (q11.23) · Distal trizomi 7q11.23 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| ICD-11 | LD41.60 | NTBT | index | validated |
| MONDO | 0016832 | E | validated | |
| UMLS | C4750782 | 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 (1):
- ORPHA:262887Partial duplication of the long arm of chromosome 7 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | DOI:10.1159/000448698[OTHER] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_DOI:10.1159/000448698[OTHER] |
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
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004942 | Aortic aneurysm | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001256 | Intellectual disability, mild | |
| Frequent (79-30%) | ||
| HP:0000739 | Anxiety | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000729 | Autistic behavior | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0000028 | Cryptorchidism | |
| HP:0001252 | Hypotonia | |
| Occasional (29-5%) | ||
| HP:0100835 | Benign neoplasm of the central nervous system | |
| HP:0002308 | Chiari malformation | |
| HP:0007330 | Frontoethmoidal encephalocele | |
| HP:0000238 | Hydrocephalus | |
| HP:0001643 | Patent ductus arteriosus | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 26109321[PMID]_25428557[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/261102
- This record as JSON: /data/d/261102.json