3q26 microduplication syndrome
Synonyms: Dup(3)(q26) · Dup(3q) syndrome · Trisomy 3q26
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 3q26 microduplication syndrome | Dup(3)(q26) · Dup(3q) syndrome · Trisomy 3q26 |
| fr | Syndrome de microduplication 3q26 | Dup(3)(q26) · Syndrome dup(3q) · Trisomie 3q26 |
| de | Mikroduplikationssyndrom 3q26 | Trisomie 3q26 · dup(3q)-Syndrom · Cornelia de Lange-ähnliches Syndrom · Dup(3)(q26) |
| es | Síndrome de microduplicación 3q26 | Dup(3)(q26) · Síndrome dup(3q) · Trisomía 3q26 |
| it | Sindrome da microduplicazione 3q26 | Dup(3)(q26) · Sindrome Cornelia de Lange-simile · Trisomia 3q26 |
| nl | 3q26-microduplicatiesyndroom | Dup(3)(q26) · Dup(3q)-syndroom · Trisomie 3q26 |
| pt | Síndrome de microduplicação 3q26 | Trissomia 3q26 |
| pl | Zespół mikroduplikacji 3q26 | Dup(3)(q26) · Trisomia 3q26 · Zespół podobny do zespołu Cornelii de Lange |
| cs | Mikroduplikační syndrom 3q26 | Cornelia de Lange-like syndrom · Dup(3)(q26) · Trizomie 3q26 |
| uk | Синдром мікродуплікації 3q26 | Dup(3)(q26) · Синдром Dup(3q) · Трисомія 3q26 |
| zh | 3q26微重复综合征 | 3号染色体长臂重复综合征 |
| tr | 3q26 mikroduplikasyon sendromu | Dup (3) (q26) · Trizomi 3q26 · Dup (3q) sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| ICD-11 | LD41.20 | NTBT | index | validated |
| MONDO | 0019878 | E | validated | |
| UMLS | C4755319 | 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:262851Partial duplication of the long arm of chromosome 3 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 | 100 cases | Worldwide | Case(s) | Validated | 27549440[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27549440[PMID] |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96095
- This record as JSON: /data/d/96095.json