Trisomy 17p syndrome
Synonyms: Dup(17p)
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Trisomy 17p syndrome | Dup(17p) |
| fr | Syndrome de trisomie 17p | = en |
| de | Trisomie 17p | = en |
| es | Síndrome de trisomía 17p | = en |
| it | Trisomia 17p | = en |
| nl | Trisomie 17p-syndroom | = en |
| pt | Síndrome de trissomia 17p | |
| pl | Zespół trisomii 17p | = en |
| cs | Trizomie 17p | = en |
| uk | Трисомія 17р | = en |
| zh | 17号染色体短臂三体 | 17号染色体短臂重复 |
| tr | Trizomi 17p | Dup (17p) |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.2 | NTBT | attributed | validated |
| MONDO | 0016840 | E | validated | |
| MeSH | C538048 | E | validated | |
| UMLS | C0795865 | E | validated | |
| GARD | 5318 | 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:262803Partial duplication of the short arm of chromosome 17 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
50 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000369 | Low-set ears | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0001371 | Flexion contracture | |
| HP:0002230 | Generalized hirsutism | |
| HP:0001510 | Growth delay | |
| HP:0000218 | High palate | |
| HP:0000126 | Hydronephrosis | |
| HP:0000316 | Hypertelorism | |
| HP:0001276 | Hypertonia | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000272 | Malar flattening | |
| HP:0000160 | Narrow mouth | |
| HP:0000113 | Polycystic kidney dysplasia | |
| HP:0000508 | Ptosis | |
| HP:0000470 | Short neck | |
| HP:0008661 | Urethral stenosis | |
| HP:0010481 | Urethral valve | |
| HP:0000445 | Wide nose | |
| Occasional (29-5%) | ||
| HP:0001650 | Aortic valve stenosis | |
| HP:0011229 | Broad eyebrow | |
| HP:0000518 | Cataract | |
| HP:0000175 | Cleft palate | |
| HP:0000280 | Coarse facial features | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000365 | Hearing impairment | |
| HP:0009890 | High anterior hairline | |
| HP:0000238 | Hydrocephalus | |
| HP:0004383 | Hypoplastic left heart | |
| HP:0002162 | Low posterior hairline | |
| HP:0000158 | Macroglossia | |
| HP:0000202 | Orofacial cleft | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0005487 | Prominent metopic ridge | |
| HP:0000448 | Prominent nose | |
| HP:0002650 | Scoliosis | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0000319 | Smooth philtrum | |
| HP:0000486 | Strabismus | |
| HP:0001883 | Talipes | |
| HP:0001182 | Tapered finger | |
| HP:0009928 | Thick nasal alae | |
| HP:0012471 | Thick vermilion border | |
| HP:0000154 | Wide mouth | |
Run the differential on the 9 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/261290
- This record as JSON: /data/d/261290.json