Trisomy X syndrome
Synonyms: 47,XXX syndrome · Triplo-X syndrome · XXX syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood, Infancy
- Status
- active
A rare sex-chromosome anomaly characterized by a variable phenotype, including various degree of global developmental delay, tall stature, epicanthal folds, hypotonia, and clinodactyly in association with seizures, renal and genitourinary abnormalities, and premature ovarian failure (POF).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Trisomy X syndrome | 47,XXX syndrome · Triplo-X syndrome · XXX syndrome |
| fr | Syndrome de trisomie x | Syndrome 47,XXX · Syndrome XXX · Syndrome triplo-X |
| de | Triple-X-Syndrom | 47,XXX-Syndrom · Triplo-X-Syndrom · Trisomie X · XXX-Syndrom |
| es | Síndrome de trisomía X | Síndrome 47,XXX · Síndrome Triplo-X · Síndrome XXX |
| it | Sindrome trisomia X | Sindrome 47,XXX · Sindrome XXX · Sindrome del triplo X |
| nl | Trisomie X-syndroom | 47,XXX-syndroom · Triple X-syndroom · Triplo-X-syndroom · XXX-syndroom |
| pt | Trissomia X | Síndrome 47 XXX · Triplo X |
| pl | Zespół trisomii chromosomu X | Zespół 47,XXX · Zespół potrójnego X · Zespół XXX |
| cs | Trizomie X | 47,XXX syndrom · Triple X syndrom · XXX syndrom · Syndrom tří X |
| uk | Трисомія X | 47,XXX синдром · Синдром потрійного Х · Синдром трипло-Х · Синдром ХХХ |
| zh | X染色体三倍体 | 3X染色体综合征 |
| tr | Trizomi X | XXX sendromu · 47, XXX sendromu · Üçlü X sendromu · Triplo-X sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q97.0 | E | specific | validated |
| ICD-11 | LD50.1 | E | specific | validated |
| MONDO | 0018066 | E | validated | |
| MeSH | C535318 | E | validated | |
| UMLS | C0221033 | E | validated | |
| GARD | 5672 | E | validated | |
| MedDRA | 10076910 | 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 (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.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 42.5 / 100 000 | Europe | Value and class | Not yet validated | 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
31 annotations · validated 2023-08-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002916 | Abnormality of chromosome segregation | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0100543 | Cognitive impairment | |
| HP:0002019 | Constipation | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000286 | Epicanthus | |
| HP:0008947 | Floppy infant | |
| HP:0001263 | Global developmental delay | |
| HP:0001270 | Motor delay | |
| HP:0001328 | Specific learning disability | |
| HP:0000098 | Tall stature | |
| Occasional (29-5%) | ||
| HP:0000739 | Anxiety | |
| HP:0001631 | Atrial septal defect | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0002960 | Autoimmunity | |
| HP:0000716 | Depression | |
| HP:0001385 | Hip dysplasia | |
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0001382 | Joint hypermobility | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0000767 | Pectus excavatum | |
| HP:0008209 | Premature ovarian insufficiency | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0000869 | Secondary amenorrhea | |
| HP:0001250 | Seizure | |
| HP:0001337 | Tremor | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0001629 | Ventricular septal defect | |
| Very rare (<4-1%) | ||
| HP:0000826 | Precocious puberty | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 20459843[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3375
- This record as JSON: /data/d/3375.json