ORPHA:261243
16p13.11 microduplication syndrome
Synonyms: Dup(16)(p13.11) · Trisomy 16p13.11
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 16p13.11 microduplication syndrome | Dup(16)(p13.11) · Trisomy 16p13.11 |
| fr | Syndrome de microduplication 16p13.11 | Dup(16)(p13.11) · Trisomie 16p13.11 |
| de | Mikroduplikationssyndrom 16p13.11 | Dup(16)(p13.11) · Trisomie 16p13.11 |
| es | Síndrome de microduplicación 16p13.11 | Dup(16)(p13.11) · Trisomía 16p13.11 |
| it | Sindrome da microduplicazione 16p13.11 | Dup(16)(p13.11) · Trisomia 16p13.11 |
| nl | 16p13.11-microduplicatiesyndroom | Dup(16)(p13.11) · Trisomie 16p13.11 |
| pt | Síndrome de microduplicação 16p13.11 | Trissomia 16p13.11 |
| pl | Zespół mikroduplikacji 16p13.11 | Dup(16)(p13.11) · Trisomia 16p13.11 |
| cs | Syndrom mikroduplikace 16p13.11 | Dup(16)(p13.11) · Trizomie 16p13.11 |
| uk | Синдром мікродуплікації 16p13.11 | Dup(16)(p13.11) · Трисомія 16p13.11 |
| zh | 16p13.11微重复综合征 | 16p13.11三体 |
| tr | 16p13.11 mikroduplikasyon sendromu | Dup (16) (p13.11) · Trizomi 16p13.11 |
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.F1 | NTBT | index | validated |
| MONDO | 0016837 | E | validated | |
| UMLS | C4304595 | 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:262794Partial duplication of the short arm of chromosome 16 syndrome
rare developmental anomalies during embryogenesis; 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 | 162 cases | Worldwide | Case(s) | Validated | 27378146[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
19 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0001263 | Global developmental delay | |
| HP:0001161 | Hand polydactyly | |
| HP:0001249 | Intellectual disability | |
| HP:0001382 | Joint hypermobility | |
| HP:0002463 | Language impairment | |
| Occasional (29-5%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0001166 | Arachnodactyly | |
| HP:0001631 | Atrial septal defect | |
| HP:0000717 | Autism | |
| HP:0001680 | Coarctation of aorta | |
| HP:0001363 | Craniosynostosis | |
| HP:0000268 | Dolichocephaly | |
| HP:0000767 | Pectus excavatum | |
| HP:0001763 | Pes planus | |
| HP:0100753 | Schizophrenia | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0001669 | Transposition of the great arteries | |
| HP:0001629 | Ventricular septal defect | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/261243
- This record as JSON: /data/d/261243.json