Distal duplication 2q syndrome
Synonyms: Distal trisomy 2q · Telomeric duplication 2q · Trisomy 2qter
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal duplication 2q syndrome | Distal trisomy 2q · Telomeric duplication 2q · Trisomy 2qter |
| fr | Syndrome de duplication distale 2q | Duplication 2qter · Duplication télomérique 2q · Trisomie 2qter · Trisomie distale 2q · Trisomie télomérique 2q |
| de | Distale Duplikation 2q | Distale Trisomie 2q · Duplikation 2q, distale · Telomere Duplikation 2q · Trisomie 2qter |
| es | Síndrome de duplicación terminal 2q | Trisomía 2qter · Trisomía terminal 2q |
| it | Sindrome duplicazione 2q distale | Trisomia 2q distale · Duplicazione 2q telomerica · Trisomia 2qter |
| nl | Distale duplicatie 2q-syndroom | Distale trisomie 2q · Telomerische duplicatie 2q · Trisomie 2qter |
| pt | Duplicação distal 2q | Duplicação telomérica 2q · Trissomia 2qter · Trissomia distal 2q |
| pl | Zespół duplikacji dystalnej 2q | Duplikacja telomerowa 2q · Dystalna duplikacja 2q · Trisomia 2qter |
| cs | Distální trizomie 2q | Distální duplikace 2q · Telomerická duplikace 2q · Trizomie 2qter |
| uk | Дистальна дуплікація 2q | Дистальна трисомія 2q · Теломерна дуплікація 2q · Трисомія 2qter |
| zh | 2号染色体长臂远端三体 | 2号染色体长臂端粒重复 |
| tr | Distal trizomi 2q | Trizomi 2qter · Distal duplikasyon 2q · Telomerik duplikasyon 2q |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| MONDO | 0019877 | E | validated | |
| UMLS | C4706361 | 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:262842Partial duplication of the long arm of chromosome 2 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/96094
- This record as JSON: /data/d/96094.json