Tetraploidy syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Tetraploidy is an extremely rare chromosomal anomaly, polyploidy, when an affected individual has four copies of each chromosome, instead of two, resulting in total of 92 chromosomes in each cell. The phenotype is severe with multiple congenital anomalies, including central nervous system, ocular, cardiac, renal, and/or genital malformations and limb defects. Most patients show severe intrauterine growth retardation, hypotonia, failure to thrive and developmental delay. It is usually associated with miscarriage.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tetraploidy syndrome | |
| fr | Syndrome de tétraploïdie | |
| de | Tetraploidie | |
| es | Síndrome de tetraploidía | |
| it | Sindrome tetraploidia | |
| nl | Tetraploïdiesyndroom | |
| pt | Tetraploidia | |
| pl | Zespół tetraploidii | |
| cs | Tetraploidie | |
| uk | Тетраплоїдія | |
| zh | 四倍体 | |
| tr | Tetraploidi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.7 | NTBT | attributed | validated |
| ICD-11 | LD42.1 | E | specific | validated |
| MONDO | 0018026 | E | validated | |
| MeSH | D057891 | E | validated | |
| UMLS | C0333694 | E | validated | |
| GARD | 5151 | 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:96321Polyploidy 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 | 12 cases | Worldwide | Case(s) | Validated | 26789424[PMID]_37981762[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 26789424[PMID]_37981762[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
17 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002916 | Abnormality of chromosome segregation | |
| HP:0004422 | Biparietal narrowing | |
| HP:0000444 | Convex nasal ridge | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
| Frequent (79-30%) | ||
| HP:0100720 | Hypoplasia of the ear cartilage | |
| HP:0000347 | Micrognathia | |
| HP:0004059 | Radial club hand | |
| HP:0000322 | Short philtrum | |
| Occasional (29-5%) | ||
| HP:0008056 | Aplasia/Hypoplasia affecting the eye | |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | |
| HP:0010515 | Aplasia/Hypoplasia of the thymus | |
| HP:0002308 | Chiari malformation | |
| HP:0000175 | Cleft palate | |
| HP:0000126 | Hydronephrosis | |
| HP:0000384 | Preauricular skin tag | |
| HP:0008678 | Renal hypoplasia/aplasia | |
Run the differential on the 5 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3305
- This record as JSON: /data/d/3305.json