Proximal 16p11.2 microduplication syndrome
Synonyms: Proximal dup(16)(p11.2) · Proximal trisomy 16p11.2
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Proximal 16p11.2 microduplication syndrome | Proximal dup(16)(p11.2) · Proximal trisomy 16p11.2 |
| fr | Syndrome de microduplication 16p11.2 proximale | Dup(16)(p11.2) proximale · Trisomie 16p11.2 proximale |
| de | Proximales Mikroduplikationssyndrom 16p11.2 | Dup(16)(p11.2), proximal · Trisomie 16p11.2, proximal |
| es | Síndrome de microduplicación proximal 16p11.2 | Dup(16)(p11.2) proximal · Trisomía proximal 16p11.2 |
| it | Sindrome da microduplicazione 16p11.2 prossimale | Dup(16)(p11.2) prossimale · Trisomia 16p11.2 prossimale |
| nl | Proximale 16p11.2-microduplicatiesyndroom | Proximale dup(16)(p11.2) · Proximale trisomie 16p11.2 |
| pt | Síndrome de microduplicação proximal da região 16p11.2 | |
| pl | Zespół mikroduplikacji proksymalnej 16p11.2 | Proksymalna dup(16)(p11.2) · Proksymalna trisomia 16p11.2 |
| cs | Proximální mikroduplikační syndrom 16p11.2 | Proximální dup(16)(p11.2) · Proximální trizomie 16p11.2 |
| uk | Синдром проксимальної мікродуплікації 16p11.2 | Проксимальна дуплікація (16)(p11.2) · Проксимальна трисомія 16p11.2 |
| zh | 近端16p11.2微重复综合征 | 近端16p11.2三体 |
| tr | Proksimal 16p11.2 mikroduplikasyon sendromu | Proksimal dup (16) (p11.2) · Proksimal trozimi 16p11.2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614671 | E | validated | |
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| MONDO | 0013847 | E | validated | |
| UMLS | C4707332 | E | validated | |
| GARD | 12388 | 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 (2):
- ORPHA:262794Partial duplication of the short arm of chromosome 16 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological 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 | 21 cases | Worldwide | Case(s) | Validated | 19914906[PMID]_19755429[PMID]_20959866[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 19914906[PMID]_19755429[PMID]_20959866[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
38 annotations · validated 2019-06-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012751 | Abnormal basal ganglia MRI signal intensity | |
| HP:0001166 | Arachnodactyly | |
| HP:0045082 | Decreased body mass index | |
| HP:0000490 | Deeply set eye | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001508 | Failure to thrive | |
| HP:0012368 | Flat face | |
| HP:0000316 | Hypertelorism | |
| HP:0001265 | Hyporeflexia | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0008551 | Microtia | |
| HP:0001270 | Motor delay | |
| HP:0004322 | Short stature | |
| HP:0000319 | Smooth philtrum | |
| HP:0045075 | Sparse eyebrow | |
| HP:0000653 | Sparse eyelashes | |
| HP:0009088 | Speech articulation difficulties | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0001337 | Tremor | |
| Frequent (79-30%) | ||
| HP:0030800 | Abnormal visual accommodation | |
| HP:0000739 | Anxiety | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000729 | Autistic behavior | |
| HP:0000722 | Compulsive behaviors | |
| HP:0001263 | Global developmental delay | |
| Occasional (29-5%) | ||
| HP:0009553 | Abnormality of the hairline | |
| HP:0000717 | Autism | |
| HP:0007302 | Bipolar affective disorder | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0002007 | Frontal bossing | |
| HP:0100753 | Schizophrenia | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0009891 | Underdeveloped supraorbital ridges | |
| Very rare (<4-1%) | ||
| HP:0002937 | Hemivertebrae | |
| HP:0000054 | Micropenis | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 19755429[PMID]_19914906[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/370079
- This record as JSON: /data/d/370079.json