Distal duplication 13q syndrome
Synonyms: Distal trisomy 13q · Telomeric duplication 13q · Trisomy 13qter
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal duplication 13q syndrome | Distal trisomy 13q · Telomeric duplication 13q · Trisomy 13qter |
| fr | Syndrome de duplication distale 13q | Trisomie télomérique 13q · Duplication 13qter · Duplication télomérique 13q · Trisomie 13qter · Trisomie distale 13q |
| de | Distale Duplikation 13q | Distale Trisomie 13q · Duplikation 13q, distale · Telomere Duplikation 13q · Trisomie 13qter |
| es | Síndrome de duplicación terminal 13q | Trisomía 13qter · Trisomía terminal 13q |
| it | Sindrome duplicazione 13q distale | Duplicazione 13q telomerica · Trisomia 13qter · Trisomia 13q distale |
| nl | Distale duplicatie 13q-syndroom | Distale trisomie 13q · Telomerische duplicatie 13q · Trisomie 13qter |
| pt | Duplicação distal 13q | Duplicação telomérica 13q · Trissomia 13qter · Trissomia distal 13q |
| pl | Zespół duplikacji dystalnej 13q | Duplikacja dystalna 13q · Duplikacja telomerowa 13q · Trisomia 13qter |
| cs | Distální trizomie 13q | Distální duplikace 13q · Telomerická duplikace 13q · Trizomie 13qter |
| uk | Дистальна дуплікація 13q | Дистальна трисомія 13q · Теломерна дуплікація 13q · Трисомія 13qter |
| zh | 13号染色体长臂远端三体 | 13号染色体长臂端粒重复 |
| tr | Distal trizomi 13q | Trizomi 13qter · Distal duplikasyon 13q · Telomerik duplikasyon 13q |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| ICD-11 | LD41.C | NTBT | index | validated |
| MONDO | 0019886 | E | validated | |
| UMLS | C4706933 | 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:262932Partial duplication of the long arm of chromosome 13 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/96105
- This record as JSON: /data/d/96105.json