Distal duplication 8q syndrome
Synonyms: Distal trisomy 8q · Telomeric duplication 8q · Trisomy 8qter
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal duplication 8q syndrome | Distal trisomy 8q · Telomeric duplication 8q · Trisomy 8qter |
| fr | Syndrome de duplication distale 8q | Duplication 8qter · Duplication télomérique 8q · Trisomie 8qter · Trisomie distale 8q · Trisomie télomérique 8q |
| de | Distale Duplikation 8q | Distale Trisomie 8q · Duplikation 8q, distale · Telomere Duplikation 8q · Trisomie 8qter |
| es | Síndrome de duplicación terminal 8q | Trisomía 8qter · Trisomía terminal 8q |
| it | Sindrome duplicazione 8q distale | Trisomia 8q distale · Duplicazione 8q telomerica · Trisomia 8qter |
| nl | Distale duplicatie 8q-syndroom | Distale trisomie 8q · Telomerische duplicatie 8q · Trisomie 8qter |
| pt | Duplicação distal 8q | Trissomia distal 8q · Duplicação telomérica 8q · Trissomia 8qter |
| pl | Zespół duplikacji dystalnej 8q | Duplikacja dystalna 8q · Duplikacja telomerowa 8q · Trisomia 8qter |
| cs | Distální trizomie 8q | Distální duplikace 8q · Telomerická duplikace 8q · Trizomie 8qter |
| uk | Дистальна дуплікація 8q | Дистальна трисомія 8q · Теломерна дуплікація 8q · Трисомія 8qter |
| zh | 8号染色体长臂远端三体 | 8号染色体长臂端粒重复 |
| tr | Distal trizomi 8q | Trizomi 8qter · Distal duplikasyon 8q · Telomerik duplikasyon 8q |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| ICD-11 | LD41.70 | NTBT | index | validated |
| MONDO | 0019882 | E | validated | |
| UMLS | C4706365 | 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:262896Partial duplication of the long arm of chromosome 8 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/96100
- This record as JSON: /data/d/96100.json