Mosaic trisomy 4 syndrome
Synonyms: Mosaic trisomy chromosome 4 · Trisomy 4 mosaicism
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mosaic trisomy 4 syndrome | Mosaic trisomy chromosome 4 · Trisomy 4 mosaicism |
| fr | Syndrome de trisomie 4 en mosaïque | |
| de | Mosaik-Trisomie 4 | Mosaik-Trisomie Chromosom 4 |
| es | Síndrome de trisomía 4 en mosaico | Trisomía del cromosoma 4 en mosaico |
| it | Sindrome trisomia 4 in mosaico | Trisomia del cromosoma 4 in mosaico · Trisomia 4 in mosaico |
| nl | Mozaïektrisomie 4-syndroom | Mozaïektrisomie chromosoom 4 · Trisomie 4 mozaïcisme |
| pt | Trissomia 4 em mosaico | |
| pl | Zespół mozaikowej trisomii chromosomu 4 | = en |
| cs | Mozaiková trizomie 4 | = en |
| uk | Мозаїчна трисомія 4 | Мозаїчна трисомія хромосоми 4 · Трисомія 4 мозаїцизм |
| zh | 4号染色体嵌合体 | 嵌合型4号染色体三体 |
| tr | Mozaik trizomi 4 | Trizomi 4 mosaisizm · 4. kromozomun mozaik trizomisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.1 | NTBT | attributed | validated |
| ICD-11 | LD40.Y | NTBT | attributed | validated |
| MONDO | 0019865 | E | validated | |
| UMLS | C4272018 | 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:98131Total autosomal trisomy 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 |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 26789019[PMID]_ORPHANET |
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 26789019[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/96059
- This record as JSON: /data/d/96059.json