16p13.3 microduplication syndrome
Synonyms: Distal duplication 16p · Distal trisomy 16p · Dup(16)(p13.3) · Telomeric duplication 16p · Trisomy 16pter
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 16p13.3 microduplication syndrome | Distal duplication 16p · Distal trisomy 16p · Dup(16)(p13.3) · Telomeric duplication 16p · Trisomy 16pter |
| fr | Syndrome de microduplication 16p13.3 | Dup(16)(p13.3) · Duplication distale 16p · Duplication télomérique 16p · Trisomie 16pter · Trisomie distale 16p |
| de | Mikroduplikationssyndrom 16p13.3 | Dup(16)(p13.3) · Duplikation 16p, distale · Trisomie 16p, distale · Trisomie 16pter |
| es | Síndrome de microduplicación 16p13.3 | Trisomía terminal 16p · Dup(16)(p13.3) · Duplicación terminal 16p · Trisomía 16pter |
| it | Sindrome da microduplicazione 16p13.3 | Dup(16)(p13.3) · Duplicazione 16p distale · Duplicazione 16p telomerica · Trisomia 16p distale · Trisomia 16pter |
| nl | 16p13.3-microduplicatiesyndroom | Distale duplicatie 16p · Distale trisomie 16p · Dup(16)(p13.3) · Telomerische duplicatie 16p · Trisomie 16pter |
| pt | Síndrome de microduplicação 16p13.3 | Trissomia distal 16p |
| pl | Zespół mikroduplikacji 16p13.3 | Dup(16)(p13.3) · Duplikacja dystalna 16p · Duplikacja telomerowa 16p · Trisomia 16pter · Trisomia dystalna 16p |
| cs | Mikroduplikační syndrom 16p13.3 | Distální duplikace 16p · Distální trizomie 16p · Dup(16)(p13.3) · Telomerická duplikace 16p · Trizomie 16pter |
| uk | Синдром мікродуплікації 16p13.3 | Дистальна дуплікація 16р · Дистальна трисомія 16р · Dup(16)(p13.3) · Теломерна дуплікація 16p · Трисомія 16-ї хромосоми |
| zh | 16p13.3微重复综合征 | 16号染色体短臂端粒重复 |
| tr | 16p13.3 mikroduplikasyon sendromu | Dup (16) (p13.3) · Trizomi 16pter · Distal trizomi 16p · Distal duplikasyon 16p · Telomerik duplikasyon 16p |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613458 | E | validated | |
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| MONDO | 0013273 | E | validated | |
| UMLS | C4518796 | E | validated | |
| GARD | 10755 | 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:262794Partial duplication of the short arm of chromosome 16 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 | 27 cases | Worldwide | Case(s) | Validated | 26873618[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26873618[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96078
- This record as JSON: /data/d/96078.json