Trisomy 5p syndrome
Synonyms: Duplication 5p · Duplication of the short arm of chromosome 5 · Trisomy of the short arm of chromosome 5
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare chromosomal anomaly caused by the duplication of a segment of variable size of the short arm of chromosome 5, characterized by macrocephaly, intellectual disability and distinctive facial features. Other common features include talipes equinovarus, cerebral malformations and hypotonia. Congenital heart defects can sometimes occur.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Trisomy 5p syndrome | Duplication 5p · Duplication of the short arm of chromosome 5 · Trisomy of the short arm of chromosome 5 |
| fr | Syndrome de trisomie 5p | Duplication 5p · Trisomie du bras court du chromosome 5p |
| de | Trisomie 5p | Duplikation 5p |
| es | Síndrome de trisomía 5p | Duplicación 5p · Duplicación del brazo corto del cromosoma 5 · Trisomía del brazo corto del cromosoma 5 |
| it | Sindrome trisomia 5p | Duplicazione 5p · Trisomia del braccio corto del cromosoma 5 · Duplicazione del braccio corto del cromosoma 5 |
| nl | Trisomie 5p-syndroom | Duplicatie 5p · Korte arm van chromosoom 5-trisomie |
| pt | Trissomia 5p | Duplicação 5p · Trissomia 5p |
| pl | Zespół trisomii 5p | Duplikacja 5p · Trisomia krótkiego ramienia chromosomu 5 |
| cs | Trizomie 5p | Duplikace 5p · Duplikace krátkého raménka chromozomu 5 · Trizomie krátkého raménka chromozomu 5 |
| uk | Трисомія 5р | Дуплікація 5р · Дуплікація короткого плеча хромосоми 5 · Трисомія короткого плеча хромосоми 5 |
| zh | 5号染色体短臂三体 | 5号染色体短臂三体 |
| tr | Trizomi 5p | Duplikasyon 5p · 5. kromozomun kısa kolunun trizomisi · 5. kromozomun kısa kolunun duplikasyonu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.2 | NTBT | attributed | validated |
| ICD-11 | LD41.41 | NTBT | index | validated |
| MONDO | 0015768 | E | validated | |
| UMLS | C0812464 | E | validated | |
| GARD | 6093 | 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 (3):
- ORPHA:98642Chromosomal anomaly with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:93461Chromosomal disease with overgrowth
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:262725Partial duplication/triplication of the short arm of chromosome 5 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 | 40 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
17 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0002916 | Abnormality of chromosome segregation | |
| HP:0002376 | Developmental regression | |
| HP:0000268 | Dolichocephaly | |
| HP:0002007 | Frontal bossing | |
| HP:0000316 | Hypertelorism | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000256 | Macrocephaly | |
| HP:0001513 | Obesity | |
| HP:0000411 | Protruding ear | |
| HP:0000508 | Ptosis | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0000311 | Round face | |
| HP:0002650 | Scoliosis | |
| HP:0004322 | Short stature | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1742
- This record as JSON: /data/d/1742.json