Distal duplication 9q syndrome
Synonyms: Distal trisomy 9q · Telomeric duplication 9q · Trisomy 9qter
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal duplication 9q syndrome | Distal trisomy 9q · Telomeric duplication 9q · Trisomy 9qter |
| fr | Syndrome de duplication distale 9q | Duplication 9qter · Duplication télomérique 9q · Trisomie 9qter · Trisomie distale 9q · Trisomie télomérique 9q |
| de | Distale Duplikation 9q | Distale Trisomie 9q · Duplikation 9q, distale · Telomere Duplikation 9q · Trisomie 9qter |
| es | Síndrome de duplicación terminal 9q | Trisomía 9qter · Trisomía terminal 9q |
| it | Duplicazione 9q distale | Trisomia 9q distale · Duplicazione 9q telomerica · Trisomia 9qter |
| nl | Distale duplicatie 9q-syndroom | Distale trisomie 9q · Telomerische duplicatie 9q · Trisomie 9qter |
| pt | Duplicação distal 9q | Duplicação telomérica 9q · Trissomia 9qter · Trissomia distal 9q |
| pl | Zespół duplikacji dystalnej 9q | Duplikacja dystalna 9q · Duplikacja telomerowa 9q · Trisomia 9qter |
| cs | Distální trizomie 9q | Distální duplikace 9q · Telomerická duplikace 9q · Trizomie 9qter |
| uk | Дистальна дуплікація 9q | Дистальна трисомія 9q · Теломерна дуплікація 9q · Трисомія 9qter |
| zh | 9号染色体长臂远端三体 | 9号染色体长臂端粒重复 |
| tr | Distal trizomi 9q | Trizomi 9qter · Distal duplikasyon 9q · Telomerik duplikasyon 9q |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| ICD-11 | LD41.80 | NTBT | index | validated |
| MONDO | 0019883 | E | validated | |
| UMLS | C4706939 | 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:262905Partial duplication of the long arm of chromosome 9 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/96101
- This record as JSON: /data/d/96101.json