ORPHA:251038
3q29 microduplication syndrome
Synonyms: Trisomy 3q29
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 3q29 microduplication syndrome | Trisomy 3q29 |
| fr | Syndrome de microduplication 3q29 | Trisomie 3q29 |
| de | Mikroduplikationssyndrom 3q29 | Trisomie 3q29 |
| es | Síndrome de microduplicación 3q29 | Trisomía 3q29 |
| it | Microduplicazione 3q29 | Trisomia 3q29 |
| nl | 3q29-microduplicatiesyndroom | Trisomie 3q29 |
| pt | Síndrome de microduplicação 3q29 | Trissomia 3q29 |
| pl | Mikroduplikacja 3q29 | Trisomia 3q29 |
| cs | Mikroduplikace 3q29 | Trizomie 3q29 |
| uk | Синдром мікродуплікації 3q29 | Трисомія 3q29 |
| zh | 染色体3q29微重复综合征 | 3q29三体 |
| tr | 3q29 mikroduplikasyon sendromu | Trizomi 3q29 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611936 | E | validated | |
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| ICD-11 | LD41.20 | NTBT | index | validated |
| MONDO | 0012761 | E | validated | |
| MeSH | C567626 | E | validated | |
| UMLS | C2749873 | E | validated | |
| GARD | 10360 | 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 (1):
- ORPHA:262851Partial duplication of the long arm of chromosome 3 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
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
30 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0001513 | Obesity | |
| Occasional (29-5%) | ||
| HP:0000526 | Aniridia | |
| HP:0004422 | Biparietal narrowing | |
| HP:0001836 | Camptodactyly of toe | |
| HP:0000518 | Cataract | |
| HP:0000175 | Cleft palate | |
| HP:0001363 | Craniosynostosis | |
| HP:0002002 | Deep philtrum | |
| HP:0004397 | Ectopic anus | |
| HP:0000365 | Hearing impairment | |
| HP:0000348 | High forehead | |
| HP:0000218 | High palate | |
| HP:0000612 | Iris coloboma | |
| HP:0000239 | Large fontanelles | |
| HP:0000369 | Low-set ears | |
| HP:0000256 | Macrocephaly | |
| HP:0000568 | Microphthalmia | |
| HP:0001852 | Sandal gap | |
| HP:0000647 | Sclerocornea | |
| HP:0001250 | Seizure | |
| HP:0000470 | Short neck | |
| HP:0001770 | Toe syndactyly | |
| HP:0001629 | Ventricular septal defect | |
| HP:0000431 | Wide nasal bridge | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/251038
- This record as JSON: /data/d/251038.json