Distal duplication 4q syndrome
Synonyms: Distal trisomy 4q · Telomeric duplication 4q · Trisomy 4qter
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal duplication 4q syndrome | Distal trisomy 4q · Telomeric duplication 4q · Trisomy 4qter |
| fr | Syndrome de duplication distale 4q | Duplication 4qter · Duplication télomérique 4q · Trisomie 4qter · Trisomie distale 4q · Trisomie télomérique 4q |
| de | Distale Duplikation 4q | Distale Trisomie 4q · Duplikation 4q, distale · Telomere Duplikation 4q · Trisomie 4qter |
| es | Síndrome de duplicación terminal 4q | Trisomía 4qter · Trisomía terminal 4q |
| it | Sindrome duplicazione 4q distale | Trisomia 4q distale · Duplicazione 4q telomerica · Trisomia 4qter |
| nl | Distale duplicatie 4q-syndroom | Distale trisomie 4q · Telomerische duplicatie 4q · Trisomie 4qter |
| pt | Duplicação distal 4q | Duplicação telomérica 4q · Trissomia 4qter · Trissomia distal 4q |
| pl | Zespół duplikacji dystalnej 4q | Duplikacja dystalna 4q · Duplikacja telomerowa 4q · Trisomia 4qter |
| cs | Distální trizomie 4q | Distální duplikace 4q · Telomerická duplikace 4q · Trizomie 4qter |
| uk | Дистальна дуплікація 4q | Дистальна трисомія 4q · Теломерна дуплікація 4q · Трисомія 4qter |
| zh | 4号染色体长臂远端三体 | 4号染色体长臂端粒重复 |
| tr | Distal trizomi 4q | Trizomi 4qter · Distal duplikasyon 4q · Telomerik duplikasyon 4q |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| ICD-11 | LD41.30 | NTBT | index | validated |
| MONDO | 0019879 | E | validated | |
| UMLS | C4706362 | 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:262860Partial duplication of the long arm of chromosome 4 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/96096
- This record as JSON: /data/d/96096.json