Trisomy 12p syndrome
Synonyms: Duplication 12p
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Neonatal
- Status
- active
A partial autosomal trisomy characterized by developmental delay and intellectual disability, generalized hypotonia, postnatal growth retardation, variable brain and heart anomalies and dysmorphic features, including frontal bossing, round face, full cheeks, low-set ears, broad nasal bridge, short nose with anteverted nares, long philtrum, thin upper lip vermilion, and everted, thick lower lip. Unspecific associated congenital anomalies have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Trisomy 12p syndrome | Duplication 12p |
| fr | Syndrome de trisomie 12p | = en |
| de | Trisomie 12p | Duplikation 12p |
| es | Síndrome de trisomía 12p | Duplicación 12p |
| it | Sindrome trisomia 12p | Duplicazione 12p |
| nl | Trisomie 12p-syndroom | Duplicatie 12p |
| pt | Trissomia 12p | Duplicação 12p · Trissomia 12p |
| pl | Zespół trisomii 12p | Duplikacja 12p |
| cs | Trizomie 12p | Duplikace 12p |
| uk | Трисомія 12р | Дуплікація 12p |
| zh | 12号染色体短臂三体 | 12号染色体短臂重复 |
| tr | Trizomi 12p | Duplikasyon 12p |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| ICD-11 | LD41.B1 | NTBT | index | validated |
| MONDO | 0015723 | E | validated | |
| MeSH | C538299 | E | validated | |
| UMLS | C0795845 | E | validated | |
| GARD | 5305 | 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:262658Partial duplication/triplication of the short arm of chromosome 12 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 40 cases | Worldwide | Case(s) | Validated | 16502429[PMID] | |
| Prevalence at birth | 1-9 / 100 000 | 2 / 100 000 | Worldwide | Value and class | Not yet validated | 8723118[PMID] |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 8723118[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
31 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002916 | Abnormality of chromosome segregation | |
| HP:0009738 | Abnormality of the antihelix | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0000286 | Epicanthus | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0012368 | Flat face | |
| HP:0000293 | Full cheeks | |
| HP:0001263 | Global developmental delay | |
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0001176 | Large hands | |
| HP:0000272 | Malar flattening | |
| HP:0000347 | Micrognathia | |
| HP:0000470 | Short neck | |
| HP:0003196 | Short nose | |
| HP:0000574 | Thick eyebrow | |
| HP:0000474 | Thickened nuchal skin fold | |
| HP:0000262 | Turricephaly | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000369 | Low-set ears | |
| HP:0000520 | Proptosis | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0000079 | Abnormality of the urinary system | |
| HP:0002023 | Anal atresia | |
| HP:0008056 | Aplasia/Hypoplasia affecting the eye | |
| HP:0008053 | Aplasia/Hypoplasia of the iris | |
| HP:0000175 | Cleft palate | |
| HP:0002558 | Supernumerary nipple | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1699
- This record as JSON: /data/d/1699.json