Distal duplication 16q syndrome
Synonyms: Distal trisomy 16q · Telomeric duplication 16q · Trisomy 16qter
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal duplication 16q syndrome | Distal trisomy 16q · Telomeric duplication 16q · Trisomy 16qter |
| fr | Syndrome de duplication distale 16q | Duplication 16qter · Duplication télomérique 16q · Trisomie 16qter · Trisomie distale 16q · Trisomie télomérique 16q |
| de | Distale Duplikation 16q | Distale Trisomie 16q · Duplikation 16q, distale · Telomere Duplikation 16q · Trisomie 16qter |
| es | Síndrome de duplicación terminal 16q | Trisomía 16qter · Trisomía terminal 16q |
| it | Sindrome duplicazione 16q distale | Duplicazione 16q telomerica · Trisomia 16qter · Trisomia 16q distale |
| nl | Distale duplicatie 16q-syndroom | Distale trisomie 16q · Telomerische duplicatie 16q · Trisomie 16qter |
| pt | Duplicação distal 16q | Duplicação telomérica 16q · Trissomia 16qter · Trissomia distal 16q |
| pl | Zespół duplikacji dystalnej 16q | Duplikacja dystalna 16q · Duplikacja telomerowa 16q · Trisomia 16qter |
| cs | Distální trizomie 16q | Distální duplikace 16q · Telomerická duplikace 16q · Trizomie 16qter |
| uk | Дистальна дуплікація 16q | Дистальна трисомія 16q · Теломерна дуплікація 16q · Трисомія 16qter |
| zh | 16号染色体长臂远端三体 | 16号染色体长臂端粒重复 |
| tr | Distal trizomi 16q | Trizomi 16qter · Distal duplikasyon 16q · Telomerik duplikasyon 16q |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| ICD-11 | LD41.F0 | NTBT | index | validated |
| MONDO | 0019887 | E | validated | |
| UMLS | C4706934 | 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:262959Partial duplication of the long 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
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96106
- This record as JSON: /data/d/96106.json