Distal duplication 3p syndrome
Synonyms: Distal trisomy 3p · Telomeric duplication 3p · Trisomy 3pter
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal duplication 3p syndrome | Distal trisomy 3p · Telomeric duplication 3p · Trisomy 3pter |
| fr | Syndrome de duplication distale 3p | Duplication 3pter · Duplication télomérique 3p · Trisomie 3pter · Trisomie distale 3p · Trisomie télomérique 3p |
| de | Distale Duplikation 3p | Distale Trisomie 3p · Duplikation 3p, distale · Telomere Duplikation 3p · Trisomie 3pter |
| es | Síndrome de duplicación terminal 3p | Trisomía 3pter · Trisomía terminal 3p |
| it | Sindrome duplicazione 3p distale | Duplicazione 3p telomerica · Trisomia 3pter · Trisomia 3p distale |
| nl | Distale duplicatie 3p-syndroom | Distale trisomie 3p · Telomerische duplicatie 3p · Trisomie 3pter |
| pt | Duplicação distal 3p | Duplicação telomérica 3p · Trissomia 3pter · Trissomia distal 3p |
| pl | Zespół duplikacji dystalnej 3p | Duplikacja dystalna 3p · Duplikacja telomerowa 3p · Trisomia 3pter |
| cs | Distální trizomie 3p | Distální duplikace 3p · Telomerická duplikace 3p · Trizomie 3pter |
| uk | Дистальна дуплікація 3p | Дистальна трисомія 3р · Теломерна дуплікація 3p · Трисомія 3pter |
| zh | 3号染色体短臂远端三体 | 3号染色体短臂端粒重复 |
| tr | Distal trizomi 3p | Trizomi 3pter · Distal duplikasyon 3p · Telomerik duplikasyon 3p |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| ICD-11 | LD41.21 | NTBT | index | validated |
| MONDO | 0019872 | E | validated | |
| UMLS | C4706938 | 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:262707Partial duplication of the short arm of chromosome 3 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96071
- This record as JSON: /data/d/96071.json