Non-distal duplication 10q syndrome
Synonyms: Non-distal trisomy 10q · Non-telomeric trisomy 10q
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-distal duplication 10q syndrome | Non-distal trisomy 10q · Non-telomeric trisomy 10q |
| fr | Syndrome de duplication non distale 10q | Délétion non télomérique 10q · Trisomie non distale 10q · Trisomie non télomérique 10q |
| de | Nicht-distale Duplikation 10q | Nicht-distale Trisomie 10q · Nicht-telomere Trisomie 10q · Trisomie 10q, partielle |
| es | Síndrome de duplicación intersticial 10q | Trisomía intersticial 10q · Trisomía no terminal 10q |
| it | Sindrome duplicazione 10q non distale | Trisomia 10q non distale · Trisomia 10q non telomerica |
| nl | Niet-distale duplicatie 10q-syndroom | Niet-distale trisomie 10q · Niet-telomerische trisomie 10q |
| pt | Duplicação não-distal 10q | Trissomia não-distal 10q · Trissomia não-telomérica 10q |
| pl | Zespół duplikacji nietelomerowej 10q | Interstycjalna duplikacja 10q · Nietelomerowa trisomia 10q · Nietelomerowa duplikacja 10q |
| cs | Non-distální trizomie 10q | Non-distální duplikace 10q · Non-telomerická trizomie 10q |
| uk | Недистальна дуплікація 10q | Недистальна трисомія 10q · Нетеломерна трисомія 10q |
| zh | 10号染色体长臂非远端三体 | 10号染色体长臂非远端重复 |
| tr | Distal olmayan trizomi 10q | Telomerik olmayan trizomi 10q · Distal olmayan duplikasyon 10q |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| MONDO | 0015712 | E | validated | |
| UMLS | C4749376 | 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 (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.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Not yet documented | — | 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
24 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002916 | Abnormality of chromosome segregation | |
| HP:0000581 | Blepharophimosis | |
| HP:0100543 | Cognitive impairment | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0002007 | Frontal bossing | |
| HP:0000348 | High forehead | |
| HP:0000316 | Hypertelorism | |
| HP:0001382 | Joint hypermobility | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0003196 | Short nose | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0008056 | Aplasia/Hypoplasia affecting the eye | |
| HP:0000248 | Brachycephaly | |
| HP:0000444 | Convex nasal ridge | |
| HP:0000028 | Cryptorchidism | |
| HP:0000218 | High palate | |
| HP:0000767 | Pectus excavatum | |
| HP:0002650 | Scoliosis | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000079 | Abnormality of the urinary system | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1695
- This record as JSON: /data/d/1695.json