2q23.1 microduplication syndrome
Synonyms: Dup(2)(q23.1) · Trisomy 2q23.1
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 2q23.1 microduplication syndrome | Dup(2)(q23.1) · Trisomy 2q23.1 |
| fr | Syndrome de microduplication 2q23.1 | Dup(2)(q23.1) · Trisomie 2q23.1 |
| de | Mikroduplikationssyndrom 2q23.1 | Dup(2)(q23.1) · Trisomie 2q23.1 |
| es | Síndrome de microduplicación 2q23.1 | Dup(2)(q23.1) · Trisomía 2q23.1 |
| it | Sindrome da microduplicazione 2q23.1 | Dup(2)(q23.1) · Trisomia 2q23.1 |
| nl | 2q23.1-microduplicatiesyndroom | Dup(2)(q23.1) · Trisomie 2q23.1 |
| pt | Sindrome de microduplicação 2q23.1 | Dup(2)(q23.1) · Trissomia 2q23.1 |
| pl | Zespół mikroduplikacji 2q23.1 | Dup(2)(q23.1) · Trisomia 2q23.1 |
| cs | Mikroduplikační syndrom 2q23.1 | Dup(2)(q23.1) · Trizomie 2q23.1 |
| uk | Синдром мікродуплікації 2q23.1 | Dup(2)(q23.1) · Трисомія 2q23.1 |
| zh | 2q23.1微重复综合征 | 2q23.1三体 |
| tr | 2q23.1 mikroduplikasyon sendromu | Dup(2)(q23.1) · Trizomi 2q23.1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 156200 | E | validated | |
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| MONDO | 0017786 | E | validated | |
| UMLS | C4707847 | 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 (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:262842Partial duplication of the long arm of chromosome 2 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 |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 22085900[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | 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.
HPO phenotypes
37 annotations · validated 2019-10-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000356 | Abnormality of the outer ear | |
| HP:0000708 | Atypical behavior | |
| HP:0000729 | Autistic behavior | |
| HP:0008947 | Floppy infant | |
| HP:0001263 | Global developmental delay | |
| HP:0001270 | Motor delay | |
| HP:0002465 | Poor speech | |
| HP:0000154 | Wide mouth | |
| Frequent (79-30%) | ||
| HP:0001760 | Abnormal foot morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0001155 | Abnormality of the hand | |
| HP:0001488 | Bilateral ptosis | |
| HP:0010055 | Broad hallux | |
| HP:0002136 | Broad-based gait | |
| HP:0000414 | Bulbous nose | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000678 | Dental crowding | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000601 | Hypotelorism | |
| HP:0000527 | Long eyelashes | |
| HP:0011800 | Midface retrusion | |
| HP:0002370 | Poor coordination | |
| HP:0005274 | Prominent nasal tip | |
| HP:0000448 | Prominent nose | |
| HP:0000817 | Reduced eye contact | |
| HP:0002360 | Sleep abnormality | |
| HP:0000486 | Strabismus | |
| HP:0000219 | Thin upper lip vermilion | |
| Occasional (29-5%) | ||
| HP:0000483 | Astigmatism | |
| HP:0000957 | Cafe-au-lait spot | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000294 | Low anterior hairline | |
| HP:0001852 | Sandal gap | |
| HP:0000331 | Short chin | |
| HP:0000505 | Visual impairment | |
| HP:0002013 | Vomiting | |
| Very rare (<4-1%) | ||
| HP:0000718 | Aggressive behavior | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 23632792[PMID]_22085900[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/313947
- This record as JSON: /data/d/313947.json