Distal duplication 7p syndrome
Synonyms: Distal trisomy 7p · Telomeric duplication 7p · Trisomy 7pter
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal duplication 7p syndrome | Distal trisomy 7p · Telomeric duplication 7p · Trisomy 7pter |
| fr | Syndrome de duplication distale 7p | Duplication 7pter · Duplication télomérique 7p · Trisomie 7pter · Trisomie distale 7p · Trisomie télomérique 7p |
| de | Distale Duplikation 7p | Distale Trisomie 7p · Duplikation 7p, distale · Telomere Duplikation 7p · Trisomie 7pter |
| es | Síndrome de duplicación terminal 7p | Trisomía 7pter · Trisomía terminal 7p |
| it | Sindrome duplicazione 7p distale | Trisomia 7p distale · Duplicazione 7p telomerica · Trisomia 7pter |
| nl | Distale duplicatie 7p-syndroom | Distale trisomie 7p · Telomerische duplicatie 7p · Trisomie 7pter |
| pt | Duplicação distal 7p | Duplicação telomérica 7p · Trissomia 7pter · Trissomia distal 7p |
| pl | Zespół duplikacji dystalnej 7p | Duplikacja dystalna 7p · Duplikacja telomerowa 7p · Trisomia 7pter |
| cs | Distální trizomie 7p | Distální duplikace 7p · Telomerická duplikace 7p · Trizomie 7pter |
| uk | Дистальна дуплікація 7p | Дистальна трисомія 7р · Теломерна дуплікація 7p · Трисомія 7-ї хромосоми |
| zh | 7号染色体短臂远端三体 | 7号染色体端粒重复 |
| tr | Distal trizomi 7p | Trizomi 7pter · Distal duplikasyon 7p · Telomerik duplikasyon 7p |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| ICD-11 | LD41.61 | NTBT | index | validated |
| MONDO | 0019874 | E | validated | |
| UMLS | C4706364 | 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:262749Partial duplication of the short arm of chromosome 7 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 | 40 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/96074
- This record as JSON: /data/d/96074.json