ORPHA:96102
Distal duplication 10q syndrome
Synonyms: Distal trisomy 10q · Telomeric duplication 10q · Trisomy 10qter
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal duplication 10q syndrome | Distal trisomy 10q · Telomeric duplication 10q · Trisomy 10qter |
| fr | Syndrome de duplication distale 10q | Duplication 10qter · Duplication télomérique 10q · Trisomie 10qter · Trisomie distale 10q · Trisomie télomérique 10q |
| de | Distale Duplikation 10q | Telomere Duplikation 10q · Trisomie 10qter · Distale Trisomie 10q · Duplikation 10q, distale |
| es | Síndrome de duplicación terminal 10q | Trisomía 10qter · Trisomía terminal 10q |
| it | Sindrome duplicazione 10q distale | Duplicazione 10q telomerica · Trisomia 10qter · Trisomia 10q distale |
| nl | Distale duplicatie 10q-syndroom | Distale trisomie 10q · Telomerische duplicatie 10q · Trisomie 10qter |
| pt | Duplicação distal 10q | Duplicação telomérica 10q · Trissomia 10qter · Trissomia distal 10q |
| pl | Zespół duplikacji dystalnej 10q | Duplikacja dystalna 10q · Duplikacja telomerowa 10q · Trisomia 10qter |
| cs | Distální trizomie 10q | Distální duplikace 10q · Telomerická duplikace 10q · Trizomie 10qter |
| uk | Дистальна дуплікація 10q | Дистальна трисомія 10q · Теломерна дуплікація 10q · Трисомія 10qter |
| zh | 10号染色体长臂远端三体 | 10号染色体长臂端粒重复 |
| tr | Distal trizomi 10q | Trizomi 10qter · Distal duplikasyon 10q · Telomerik duplikasyon 10q |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| ICD-11 | LD41.90 | NTBT | index | validated |
| MONDO | 0019884 | E | validated | |
| MeSH | C538087 | E | validated | |
| UMLS | C2931728 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:98642Chromosomal anomaly with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:262914Partial duplication of the long arm of chromosome 10 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96102
- This record as JSON: /data/d/96102.json