Mosaic trisomy 5 syndrome
Synonyms: Mosaic trisomy chromosome 5 · Trisomy 5 mosaicism
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mosaic trisomy 5 syndrome | Mosaic trisomy chromosome 5 · Trisomy 5 mosaicism |
| fr | Syndrome de trisomie 5 en mosaïque | |
| de | Mosaik-Trisomie 5 | Mosaik-Trisomie Chromosom 5 |
| es | Síndrome de trisomía 5 en mosaico | Trisomía del cromosoma 5 en mosaico |
| it | Sindrome trisomia 5 in mosaico | Trisomia 5 in mosaico · Trisomia del cromosoma 5 in mosaico |
| nl | Mozaïektrisomie 5-syndroom | Mozaïektrisomie chromosoom 5 · Trisomie 5 mozaïcisme |
| pt | Trissomia 5 em mosaico | |
| pl | Zespół mozaikowej trisomii chromosomu 5 | = en |
| cs | Mozaiková trizomie 5 | = en |
| uk | Мозаїчна трисомія 5 | Мозаїчна трисомія хромосоми 5 · Трисомія 5 мозаїцизм |
| zh | 5号染色体嵌合体 | 嵌合型4号染色体三体 |
| tr | Mozaik trizomi 5 | Trizomi 5 mosaisizm · 5. 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 | 0019866 | E | validated | |
| UMLS | C2931603 | 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 |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 28653809[PMID]_33218416[PMID]_33411590[PMID]_32820524[PMID]_29141250[PMID]_30998911[PMID]_19664845[PMID]_1386985[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 28653809[PMID]_33218416[PMID]_33411590[PMID]_32820524[PMID]_29141250[PMID]_30998911[PMID]_19664845[PMID]_1386985[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96060
- This record as JSON: /data/d/96060.json