Pentasomy X syndrome
Synonyms: 49,XXXXX syndrome · Penta-X · Poly-X
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
A rare sex-chromosome number anomaly characterized by the presence of five X chromosomes in females instead of the usual two. Patients present with global developmental delay, intellectual disability, musculoskeletal abnormalities (mostly small hands and feet, camptodactyly, clinodactyly, radioulnar synostosis), and craniofacial anomalies (such as microcephaly, plagiocephaly, upslanting palpebral fissures, hypertelorism, flat nasal bridge, ear malformations, microganthia). Cardiovascular malformations can sometimes be present as well as immunoglobulin anomalies and an increased susceptibility to infections. External genitalia are generally normal but gonadal dysfunction has been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pentasomy X syndrome | 49,XXXXX syndrome · Penta-X · Poly-X |
| fr | Syndrome de pentasomie x | Penta-X · Poly-X · Syndrome 49,XXXXX |
| de | Pentasomie X | 49,XXXXX-Syndrom · Penta-X-Syndrom · Poly-X-Syndrom |
| es | Síndrome de pentasomía X | Penta-X · Poli-X · Síndrome 49,XXXXX |
| it | Sindrome pentasomia X | Penta-X · Poli-X · Sindrome 49,XXXXX |
| nl | Pentasomie X-syndroom | 49,XXXXX-syndroom · Penta-X · Poly-X |
| pt | Pentassomia X | Síndrome 49,XXXXX · Síndrome Penta X |
| pl | Zespół pantasomii chromosomu X | Penta X · Poli X · Zespół 49,XXXXX |
| cs | Pentazomie X | 49,XXXXX syndrom · Penta-X · Poly-X |
| uk | Пентасомія X | 49,XXXXX синдром · Пента-Х · Poly-X |
| zh | X染色体五倍体 | 49,XXXXX综合征 |
| tr | Pentazomi X | Poly-X · Penta-X · 49, XXXXX sendromu |
Definition in:
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 | 0015228 | E | validated | |
| MeSH | C535319 | E | validated | |
| UMLS | C2937419 | E | validated | |
| GARD | 5678 | 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:263723Polysomy of X chromosome 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 | Unknown | — | Worldwide | Class only | 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
22 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001252 | Hypotonia | |
| HP:0000358 | Posteriorly rotated ears | |
| Frequent (79-30%) | ||
| HP:0100490 | Camptodactyly of finger | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0001263 | Global developmental delay | |
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0001357 | Plagiocephaly | |
| HP:0002974 | Radioulnar synostosis | |
| HP:0001773 | Short foot | |
| HP:0004322 | Short stature | |
| HP:0200055 | Small hand | |
| HP:0000486 | Strabismus | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0010978 | Abnormality of immune system physiology | |
| HP:0000823 | Delayed puberty | |
| HP:0001385 | Hip dysplasia | |
| HP:0001643 | Patent ductus arteriosus | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/11
- This record as JSON: /data/d/11.json