10q22.3q23.3 microduplication syndrome
Synonyms: Dup(10)(q22.3q23.3) · Trisomy 10q22.3q23.3
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, chromosomal anomaly characterized by variable clinical features that may include developmental delay, mild intellectual disability and dysmorphic facial features. In some cases, microcephaly, growth retardation and congenital heart defects have been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 10q22.3q23.3 microduplication syndrome | Dup(10)(q22.3q23.3) · Trisomy 10q22.3q23.3 |
| fr | Syndrome de microduplication 10q22.3q23.3 | Dup(10)(q22.3q23.3) · Trisomie 10q22.3q23.3 |
| de | Mikroduplikationssyndrom 10q22.3q23.3 | Dup(10)(q22.3q23.3) · Trisomie 10q22.3q23.3 |
| es | Síndrome de microduplicación 10q22.3q23.3 | Dup(10)(q22.3q23.3) · Trisomía 10q22.3q23.3 |
| it | Sindrome da microduplicazione 10q22.3q23.3 | Dup(10)(q22.3q23.3) · Trisomia 10q22.3q23.3 |
| nl | 10q22.3q23.3-microduplicatiesyndroom | Dup(10)(q22.3q23.3) · Trisomie 10q22.3q23.3 |
| pt | Síndrome de microduplicação 10q22.3q23.3 | |
| pl | Zespół mikroduplikacji 10q22.3q23.3 | Dup(10)(q22.3q23.3) · Trisomia 10q22.3q23.3 |
| cs | Syndrom mikroduplikace 10q22.3q23.3 | Dup(10)(q22.3q23.3) · Trizomie 10q22.3q23.3 |
| uk | Синдром мікродуплікації 10q22.3q23.3 | Dup(10)(q22.3q23.3) · Трисомія 10q22.3q23.3 |
| zh | 10q22.3q23.3微重复综合征 | 10q22.3q23.3三体 |
| tr | 10q22.3q23.3 mikroduplikasyon sendromu | Dup(10)(q22.3q23.3) · Trizomi 10q22.3q23.3 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| ICD-11 | LD41.90 | NTBT | index | validated |
| MONDO | 0017180 | E | validated | |
| UMLS | C5190512 | 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:262914Partial duplication of the long arm of chromosome 10 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
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000490 | Deeply set eye | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000288 | Abnormality of the philtrum | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0002381 | Aphasia | |
| HP:0000337 | Broad forehead | |
| HP:0000293 | Full cheeks | |
| HP:0001263 | Global developmental delay | |
| HP:0000047 | Hypospadias | |
| HP:0000601 | Hypotelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0000308 | Microretrognathia | |
| HP:0000486 | Strabismus | |
| HP:0000582 | Upslanted palpebral fissure | |
| Occasional (29-5%) | ||
| HP:0000772 | Abnormal rib morphology | |
| HP:0000889 | Abnormality of the clavicle | |
| HP:0000389 | Chronic otitis media | |
| HP:0000369 | Low-set ears | |
| HP:0001636 | Tetralogy of Fallot | |
Run the differential on the 1 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/276422
- This record as JSON: /data/d/276422.json