ORPHA:9
Tetrasomy X syndrome
Synonyms: 48,XXXX syndrome · Quadruple X · Tetra X
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tetrasomy X syndrome | 48,XXXX syndrome · Quadruple X · Tetra X |
| fr | Syndrome de tétrasomie x | Quadruple X · Syndrome 48,XXXX · Tétra X |
| de | Tetrasomie X | 48,XXXX-Syndrom · Tetra-X-Syndrom |
| es | Síndrome de tetrasomía X | Síndrome 48,XXXX · Tetra X · X cuádruple |
| it | Sindrome tetrasomia X | Quadruplo X · Sindrome 48,XXXX · Tetra X |
| nl | Tetrasomie X-syndroom | 48,XXXX-syndroom · Quadrupel X · Tetra X |
| pt | Tetrassomia X | Síndrome 48,XXXX |
| pl | Zespół tetrasomii chromosomu X | Tetra X · Zespół 48,XXXX |
| cs | Tetrazomie X | 48, XXXX syndrom · Quadruple X · Tetra X |
| uk | Тетрасомія X | 48,XXXX синдром · Чотири X · Tetra X |
| zh | X染色体四倍体 | 48,XXXX综合征 |
| tr | Tetrazomi X | Tetra X · Dörtlü X · 48,XXXX sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q97.1 | NTBT | attributed | validated |
| ICD-11 | LD50.Y | NTBT | index | validated |
| MONDO | 0019525 | E | validated | |
| MeSH | C536502 | E | validated | |
| UMLS | C0265496 | E | validated | |
| GARD | 7754 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:263723Polysomy of X chromosome syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:399853Rare female infertility due to an anomaly of ovarian function
rare infertility disorders - ORPHA:400022Rare female infertility due to an anomaly of ovarian function of genetic origin
rare genetic diseases - ORPHA:485382Rare genetic premature ovarian failure
rare genetic diseases - ORPHA:95710Rare non-acquired premature ovarian failure
rare endocrine diseases; rare gynecological and obstetric diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | 23494840[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23494840[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.
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HPO phenotypes
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0100543 | Cognitive impairment | |
| HP:0000286 | Epicanthus | |
| HP:0001263 | Global developmental delay | |
| HP:0000316 | Hypertelorism | |
| HP:0001252 | Hypotonia | |
| HP:0001382 | Joint hypermobility | |
| HP:0002974 | Radioulnar synostosis | |
| HP:0001328 | Specific learning disability | |
| HP:0000486 | Strabismus | |
| HP:0000582 | Upslanted palpebral fissure | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0010978 | Abnormality of immune system physiology | |
| HP:0001156 | Brachydactyly | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0001385 | Hip dysplasia | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/9
- This record as JSON: /data/d/9.json