Mosaic trisomy 10 syndrome
Synonyms: Mosaic trisomy chromosome 10 · Trisomy 10 mosaicism
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually ocurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mosaic trisomy 10 syndrome | Mosaic trisomy chromosome 10 · Trisomy 10 mosaicism |
| fr | Syndrome de trisomie 10 en mosaïque | |
| de | Mosaik-Trisomie 10 | Mosaik-Trisomie Chromosom 10 |
| es | Síndrome de trisomía 10 en mosaico | Trisomía del cromosoma 10 en mosaico |
| it | Sindrome trisomia 10 in mosaico | Trisomia del cromosoma 10 in mosaico · Trisomia 10 in mosaico |
| nl | Mozaïektrisomie 10-syndroom | Mozaïektrisomie chromosoom 10 · Trisomie 10 mozaïcisme |
| pt | Trissomia 10 em mosaico | |
| pl | Zespół mozaikowej trisomii chromosomu 10 | = en |
| cs | Mozaiková trizomie 10 | = en |
| uk | Мозаїчна трисомія 10 | Мозаїчна трисомія хромосоми 10 · Трисомія 10 мозаїцизм |
| zh | 10号染色体嵌合体 | 嵌合型10号染色体三体 |
| tr | Mozaik trizomi 10 | Trizomi 10 mosaisizm · 10. 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 | 0019868 | E | validated | |
| UMLS | C2931794 | 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 | 7 cases | Worldwide | Case(s) | Validated | 30081864[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 30081864[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/96063
- This record as JSON: /data/d/96063.json