4p16.3 microduplication syndrome
Synonyms: Distal duplication 4p · Distal trisomy 4p · Telomeric duplication 4p · Trisomy 4pter
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 4p16.3 microduplication syndrome | Distal duplication 4p · Distal trisomy 4p · Telomeric duplication 4p · Trisomy 4pter |
| fr | Syndrome de microduplication 4p16.3 | Trisomie 4pter · Trisomie distale 4p · Duplication distale 4p · Duplication télomérique 4p |
| de | Mikroduplikationssyndrom 4p16.3 | Duplikation 4p, distale · Telomere Duplikation 4p · Trisomie 4p, distale · Trisomie 4pter |
| es | Síndrome de microduplicación 4p16.3 | Trisomía 4pter · Trisomía terminal 4p |
| it | Sindrome da microduplicazione 4p16.3 | Duplicazione 4p distale · Duplicazione 4p telomerica · Trisomia 4p distale · Trisomia 4pter |
| nl | 4p16.3-microduplicatiesyndroom | Distale duplicatie 4p · Distale trisomie 4p · Telomerische duplicatie 4p · Trisomie 4pter |
| pt | Síndrome de microduplicação 4p16.3 | Trissomia distal 4p |
| pl | Zespół mikroduplikacji 4p16.3 | Duplikacja dystalna 4p · Duplikacja telomerowa 4p · Trisomia 4pter · Trisomia dystalna 4p |
| cs | Mikroduplikační syndrom 4p16.3 | Distální duplikace 4p · Distální trizomie 4p · Telomerická duplikace 4p · Trizomie 4pter |
| uk | Синдром мікродуплікації 4p16.3 | Дистальна дуплікація 4p · Дистальна трисомія 4р · Теломерна дуплікація 4p · Трисомія 4pter |
| zh | 4p16.3微重复综合征 | 4号染色体端粒重复 |
| tr | 4p16.3 mikroduplikasyon sendromu | Trizomi 4pter · Distal trizomi 4p · Distal duplikasyon 4p · Telomerik duplikasyon 4p |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| ICD-11 | LD41.31 | NTBT | index | validated |
| MONDO | 0019873 | E | validated | |
| UMLS | C4512053 | 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:93461Chromosomal disease with overgrowth
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:262716Partial duplication of the short arm of chromosome 4 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 | 47 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96072
- This record as JSON: /data/d/96072.json