ORPHA:1707
Distal duplication 15q syndrome
Synonyms: Distal trisomy 15q · Telomeric duplication 15q · Trisomy 15qter
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
This disease is described under 15q overgrowth syndrome
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal duplication 15q syndrome | Distal trisomy 15q · Telomeric duplication 15q · Trisomy 15qter |
| fr | Syndrome de duplication distale 15q | Duplication 15qter · Duplication télomérique 15q · Trisomie 15qter · Trisomie distale 15q |
| de | Distale Duplikation 15q | Distale Trisomie 15q · Telomere Duplikation 15q · Trisomie 15qter |
| es | Síndrome de duplicación terminal 15q | Trisomía 15qter · Trisomía terminal 15q |
| it | Sindrome duplicazione 15q distale | Duplicazione 15q telomerica · Trisomia 15q distale · Trisomia 15qter |
| nl | Distale duplicatie 15q-syndroom | Distale trisomie 15q · Telomerische duplicatie 15q · Trisomie 15qter |
| pt | Duplicação distal 15q | Duplicação telomérica 15q · Trissomia 15qter · Trissomia distal 15q |
| pl | Zespół duplikacji dystalnej 15q | Dystalna duplikacja 15q · Telomerowa duplikacja 15q · Trisomia 15qter |
| cs | Distální trizomie 15q | Distální duplikace 15q · Telomerická duplikace 15q · Trizomie 15qter |
| uk | Дистальна дуплікація 15q | Дистальна трисомія 15q · Теломерна дуплікація 15q · Трисомія 15qter |
| zh | 15号染色体长臂远端三体 | Distal duplication 15q |
| tr | Distal trizomi 15q | Trizomi 15qter · Distal duplikasyon 15q · Telomerik duplikasyon 15q |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| ICD-11 | LD2C | NTBT | attributed | validated |
| MONDO | 0015728 | E | validated | |
| MeSH | C538036 | E | validated | |
| UMLS | C2931705 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:31458515q overgrowth syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
29 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001166 | Arachnodactyly | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000028 | Cryptorchidism | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0000218 | High palate | |
| HP:0001249 | Intellectual disability | |
| HP:0001387 | Joint stiffness | |
| HP:0000343 | Long philtrum | |
| HP:0000347 | Micrognathia | |
| HP:0000767 | Pectus excavatum | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000340 | Sloping forehead | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000055 | Abnormality of female external genitalia | |
| HP:0000581 | Blepharophimosis | |
| HP:0005988 | Congenital muscular torticollis | |
| HP:0000324 | Facial asymmetry | |
| HP:0001276 | Hypertonia | |
| HP:0001252 | Hypotonia | |
| HP:0000252 | Microcephaly | |
| HP:0000508 | Ptosis | |
| HP:0001250 | Seizure | |
| HP:0000470 | Short neck | |
| Occasional (29-5%) | ||
| HP:0000383 | Abnormality of periauricular region | |
| HP:0002023 | Anal atresia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001539 | Omphalocele | |
| HP:0000098 | Tall stature | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1707
- This record as JSON: /data/d/1707.json