Distal duplication 6q syndrome
Synonyms: Distal trisomy 6q · Telomeric duplication 6q · Trisomy 6qter
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal duplication 6q syndrome | Distal trisomy 6q · Telomeric duplication 6q · Trisomy 6qter |
| fr | Syndrome de duplication distale 6q | Duplication 6qter · Duplication télomérique 6q · Trisomie 6qter · Trisomie distale 6q · Trisomie télomérique 6q |
| de | Distale Duplikation 6q | Distale Trisomie 6q · Duplikation 6q, distale · Telomere Duplikation 6q · Trisomie 6qter |
| es | Síndrome de duplicación terminal 6q | Trisomía 6qter · Trisomía terminal 6q |
| it | Sindrome duplicazione 6q distale | Trisomia 6q distale · Duplicazione 6q telomerica · Trisomia 6qter |
| nl | Distale duplicatie 6q-syndroom | Distale trisomie 6q · Telomerische duplicatie 6q · Trisomie 6qter |
| pt | Duplicação distal 6q | Duplicação telomérica 6q · Trissomia 6qter · Trissomia distal 6q |
| pl | Zespół duplikacji dystalnej 6q | Duplikacja dystalna 6q · Duplikacja telomerowa 6q · Trisomia 6qter |
| cs | Distální trizomie 6q | Distální duplikace 6q · Telomerická duplikace 6q · Trizomie 6qter |
| uk | Дистальна дуплікація 6q | Дистальна трисомія 6q · Теломерна дуплікація 6q · Трисомія 6qter |
| zh | 6号染色体长臂远端三体 | 6号染色体长臂端粒重复 |
| tr | Distal trizomi 6q | Trizomi 6qter · Distal duplikasyon 6q · Telomerik duplikasyon 6q |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| ICD-11 | LD41.50 | NTBT | index | validated |
| MONDO | 0019881 | E | validated | |
| MeSH | C537810 | E | validated | |
| UMLS | C0795817 | 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:262878Partial duplication of the long arm of chromosome 6 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/96098
- This record as JSON: /data/d/96098.json