ORPHA:217340
17q21.31 microduplication syndrome
Synonyms: Dup(17)(q21.31) · Trisomy 17q21.31
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 17q21.31 microduplication syndrome | Dup(17)(q21.31) · Trisomy 17q21.31 |
| fr | Syndrome de microduplication 17q21.31 | Dup(17)(q21.31) · Trisomie 17q21.31 |
| de | Mikroduplikationssyndrom 17q21.31 | Dup(17)(q21.31) · Trisomie 17q21.31 |
| es | Síndrome de microduplicación 17q21.31 | Dup(17)(q21.31) · Trisomía 17q21.31 |
| it | Sindrome da microduplicazione 17q21.31 | Dup(17)(q21.31) · Trisomia 17q21.31 |
| nl | 17q21.31-microduplicatiesyndroom | Dup(17)(q21.31) · Trisomie 17q21.31 |
| pt | Síndrome de microduplicação 17q21.31 | Trissomia 17q21.31 |
| pl | Zespół mikroduplikacji 17q21.31 | Dup(17)(q21.31) · Trisomia 17q21.31 |
| cs | Mikroduplikační syndrom 17q21.31 | Dup(17)(q21.31) · Trizomie 17q21.31 |
| uk | Синдром мікродуплікації 17q21.31 | Dup(17)(q21.31) · Трисомія 17q21.31 |
| zh | 17q21.31微重复综合征 | 17q21.31三体 |
| tr | 17q21.31 mikroduplikasyon sendromu | Dup (17) (q21.31) · Trizomi 17q21.31 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613533 | E | validated | |
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| ICD-11 | LD41.G0 | NTBT | index | validated |
| MONDO | 0013298 | E | validated | |
| UMLS | C4274345 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:262968Partial duplication of the long arm of chromosome 17 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Europe | 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.
6
HPO phenotypes
25 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000356 | Abnormality of the outer ear | |
| HP:0000717 | Autism | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| Frequent (79-30%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0000463 | Anteverted nares | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000729 | Autistic behavior | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002230 | Generalized hirsutism | |
| HP:0000218 | High palate | |
| HP:0001252 | Hypotonia | |
| HP:0000272 | Malar flattening | |
| HP:0003196 | Short nose | |
| HP:0000322 | Short philtrum | |
| HP:0001770 | Toe syndactyly | |
| Occasional (29-5%) | ||
| HP:0000722 | Compulsive behaviors | |
| HP:0000823 | Delayed puberty | |
| HP:0000286 | Epicanthus | |
| HP:0001508 | Failure to thrive | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0001852 | Sandal gap | |
| HP:0000664 | Synophrys | |
| HP:0000574 | Thick eyebrow | |
Run the differential on the 4 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/217340
- This record as JSON: /data/d/217340.json