16p11.2p12.2 microduplication syndrome
Synonyms: Dup(16)(p11.2p12.2) · Trisomy 16p11.2p12.2
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behavior, behavioral problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 16p11.2p12.2 microduplication syndrome | Dup(16)(p11.2p12.2) · Trisomy 16p11.2p12.2 |
| fr | Syndrome de microduplication 16p11.2p12.2 | Dup(16)(p11.2p12.2) · Trisomie 16p11.2p12.2 |
| de | Mikroduplikationssyndrom 16p11.2p12.2 | Dup(16)(p11.2p12.2) · Trisomie 16p11.2p12.2 |
| es | Síndrome de microduplicación 16p11.2p12.2 | Dup(16)(p11.2p12.2) · Trisomía 16p11.2p12.2 |
| it | Sindrome da microduplicazione 16p11.2p12.2 | Dup(16)(p11.2p12.2) · Trisomia 16p11.2p12.2 |
| nl | 16p11.2p12.2-microduplicatiesyndroom | Dup(16)(p11.2p12.2) · Trisomie 16p11.2p12.2 |
| pt | Síndrome de microduplicação 16p11.2p12.2 | Trissomia 16p11.2p12.2 |
| pl | Zespół mikroduplikacji 16p11.2p12.2 | Dup(16)(p11.2p12.2) · Trisomia 16p11.2p12.2 |
| cs | Syndrom mikroduplikace 16p11.2p12.2 | Dup(16)(p11.2p12.2) · Trizomie 16p11.2p12.2 |
| uk | Синдром мікродуплікації 16p11.2p12.2 | Dup(16)(p11.2p12.2) · Трисомія 16p11.2p12.2 |
| zh | 染色体16p11.2p12.2微复制综合征 | 16p11.2p12.2三体 |
| tr | 16p11.2p12.2 mikrodüplikasyon sendromu | Dup (16) (p11.2p12.2) · Trizomi 16p11.2p12.2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| MONDO | 0016834 | E | validated | |
| UMLS | C4518821 | 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:262794Partial duplication of the short arm of chromosome 16 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 |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24259393[PMID] |
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 24259393[PMID] |
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
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000252 | Microcephaly | |
| Occasional (29-5%) | ||
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000717 | Autism | |
| HP:0000175 | Cleft palate | |
| HP:0001332 | Dystonia | |
| HP:0001263 | Global developmental delay | |
| HP:0000047 | Hypospadias | |
| HP:0001249 | Intellectual disability | |
| HP:0002463 | Language impairment | |
| HP:0000545 | Myopia | |
| HP:0000767 | Pectus excavatum | |
| HP:0000709 | Psychosis | |
| HP:0100753 | Schizophrenia | |
| HP:0001250 | Seizure | |
Run the differential on the 1 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/261204
- This record as JSON: /data/d/261204.json