Distal duplication 1p36 syndrome
Synonyms: Distal trisomy 1p36 · Telomeric duplication 1p36 · Trisomy 1pter
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal duplication 1p36 syndrome | Distal trisomy 1p36 · Telomeric duplication 1p36 · Trisomy 1pter |
| fr | Syndrome de duplication distale 1p36 | Duplication 1pter · Duplication télomérique 1p36 · Trisomie 1pter · Trisomie distale 1p36 · Trisomie télomérique 1p36 |
| de | Distale Duplikation 1p36 | Distale Trisomie 1p36 · Telomere Duplikation 1p36 · Trisomie 1pter |
| es | Síndrome de duplicación terminal 1p36 | Trisomía 1pter · Trisomía terminal 1p36 |
| it | Sindrome duplicazione 1p36 distale | Trisomia 1p36 distale · Duplicazione 1p36 telomerica · Trisomia 1pter |
| nl | Distale duplicatie 1p36-syndroom | Distale trisomie 1p36 · Telomerische duplicatie 1p36 · Trisomie 1pter |
| pt | Duplicação distal 1p36 | Duplicação telomérica 1p36 · Trissomia 1pter · Trissomia distal 1p36 |
| pl | Zespół duplikacji dystalnej 1p36 | Duplikacja dystalna 1p36 · Duplikacja telomerowa 1p36 · Trisomia 1pter |
| cs | Distální trizomie 1p36 | Distální duplikace 1p36 · Telomerická duplikace 1p36 · Trizomie 1pter |
| uk | Дистальна дуплікація 1p36 | Дистальна трисомія 1р36 · Теломерна дуплікація 1p36 · Трисомія 1pter |
| zh | 1p36远端三体 | 1p36端粒重复 |
| tr | Distal trizomi 1p36 | Trizomi 1pter · Distal duplikasyon 1p36 · Telomerik duplikasyon 1p36 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| ICD-11 | LD41.01 | NTBT | index | validated |
| MONDO | 0019870 | E | validated | |
| UMLS | C4707665 | 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:264431Partial duplication of the short arm of chromosome 1 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/96069
- This record as JSON: /data/d/96069.json