Non-distal duplication 13q syndrome
Synonyms: Non-distal trisomy 13q · Non-telomeric trisomy 13q
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-distal duplication 13q syndrome | Non-distal trisomy 13q · Non-telomeric trisomy 13q |
| fr | Syndrome de duplication non distale 13q | Délétion non télomérique 13q · Trisomie non distale 13q · Trisomie non télomérique 13q |
| de | Nicht-distale Duplikation 13q | Nicht-distale Trisomie 13q · Nicht-telomere Trisomie 13q |
| es | Síndrome de duplicación intersticial 13q | Trisomía intersticial 13q · Trisomía no terminal 13q |
| it | Sindrome duplicazione 13q non distale | Trisomia 13q non distale · Trisomia 13q non telomerica |
| nl | Niet-distale duplicatie 13q-syndroom | Niet-distale trisomie 13q · Niet-telomerische trisomie 13q |
| pt | Duplicação não-distal 13q | Trissomia não-distal 13q · Trissomia não-telomérica 13q |
| pl | Zespół duplikacji nietelomerowej 13q | Interstycjalna duplikacja 13q · Nietelomerowa trisomia 13q |
| cs | Non-distální trizomie 13q | Non-distální duplikace 13q · Non-telomerická trizomie 13q |
| uk | Недистальна дуплікація 13q | Недистальна трисомія 13q · Нетеломерна трисомія 13q |
| zh | 13号染色体长臂非远端三体 | 13号染色体长臂非远端重复 |
| tr | Distal olmayan trizomi 13q | Telomerik olmayan trizomi 13q · Distal olmayan duplikasyon 13q |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| MONDO | 0015724 | E | validated | |
| UMLS | C4707260 | 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:262932Partial duplication of the long arm of chromosome 13 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 | 2 cases | Worldwide | Case(s) | Validated | 10674161[PMID]_10674161[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 10674161[PMID]_10674161[PMID]_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
27 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000499 | Abnormal eyelash morphology | |
| HP:0002916 | Abnormality of chromosome segregation | |
| HP:0009738 | Abnormality of the antihelix | |
| HP:0009906 | Aplasia/Hypoplasia of the earlobes | |
| HP:0100543 | Cognitive impairment | |
| HP:0001028 | Hemangioma | |
| HP:0000601 | Hypotelorism | |
| HP:0000343 | Long philtrum | |
| HP:0000774 | Narrow chest | |
| HP:0003196 | Short nose | |
| HP:0000664 | Synophrys | |
| HP:0000574 | Thick eyebrow | |
| HP:0000233 | Thin vermilion border | |
| HP:0000243 | Trigonocephaly | |
| HP:0006610 | Wide intermamillary distance | |
| Frequent (79-30%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0001166 | Arachnodactyly | |
| HP:0000028 | Cryptorchidism | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0100790 | Hernia | |
| HP:0000218 | High palate | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0001162 | Postaxial hand polydactyly | |
| Occasional (29-5%) | ||
| HP:0008056 | Aplasia/Hypoplasia affecting the eye | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1702
- This record as JSON: /data/d/1702.json