Mosaic trisomy 15 syndrome
Synonyms: Mosaic trisomy chromosome 15 · Trisomy 15 mosaicism
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mosaic trisomy 15 syndrome | Mosaic trisomy chromosome 15 · Trisomy 15 mosaicism |
| fr | Syndrome de trisomie 15 en mosaïque | |
| de | Mosaik-Trisomie 15 | Mosaik-Trisomie Chromosom 15 |
| es | Síndrome de trisomía 15 en mosaico | Trisomía del cromosoma 15 en mosaico |
| it | Sindrome trisomia 15 in mosaico | Trisomia del cromosoma 15 in mosaico |
| nl | Mozaïektrisomie 15-syndroom | Mozaïektrisomie chromosoom 15 · Trisomie 15 mozaïcisme |
| pt | Trissomia 15 em mosaico | |
| pl | Zespół mozaikowej trisomii chromosomu 15 | = en |
| cs | Mozaiková forma trizomie 15 | = en |
| uk | Мозаїчна трисомія 15 | Мозаїчна трисомія хромосоми 15 · Трисомія 15 мозаїчність |
| zh | 15号染色体嵌合三倍体 | 嵌合15号染色体三体 |
| tr | Mozaik trizomi 15 | Trizomi 15 mozaisizmi · Mozaik trizomi kromozomu 15 |
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 | 0015727 | E | validated | |
| MeSH | C538037 | E | validated | |
| UMLS | C2931707 | E | validated | |
| GARD | 5313 | 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
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25736076[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
6 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001155 | Abnormality of the hand | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0001252 | Hypotonia | |
| Frequent (79-30%) | ||
| HP:0002916 | Abnormality of chromosome segregation | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0004097 | Deviation of finger | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1706
- This record as JSON: /data/d/1706.json