1q21.1 microduplication syndrome
Synonyms: Dup(1)(q21.1) · Trisomy 1q21.1
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 1q21.1 microduplication syndrome | Dup(1)(q21.1) · Trisomy 1q21.1 |
| fr | Syndrome de microduplication 1q21.1 | Dup(1)(q21.1) · Trisomie 1q21.1 |
| de | Mikroduplikationssyndrom 1q21.1 | Dup(1)(q21.1) · Trisomie 1q21.1 |
| es | Síndrome de microduplicación 1q21.1 | Dup(1)(q21.1) · Trisomía 1q21.1 |
| it | Sindrome da microduplicazione 1q21.1 | Dup(1)(q21.1) · Trisomia 1q21.1 |
| nl | 1q21.1-microduplicatiesyndroom | Dup(1)(q21.1) · Trisomie 1q21.1 |
| pt | Síndrome de microduplicação 1q21.1 | Trissomia 1q21.1 |
| pl | Zespół mikroduplikacji 1q21.1 | Dup(1)(q21.1) · Trisomia 1q21.1 |
| cs | Syndrom mikroduplikace 1q21.1 | Dup(1)(q21.1) · Trizomie 1q21.1 |
| uk | Синдром мікродуплікації 1q21.1 | Dup(1)(q21.1) · Трисомія 1q21.1 |
| zh | 染色体1q21.1微重复综合征 | 1q21.1三体 |
| tr | 1q21.1 mikroduplikasyon sendromu | Dup (1) (q21.1) · Trizomi 1q21.1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612475 | E | validated | |
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| ICD-11 | LD41.00 | NTBT | index | validated |
| MONDO | 0012915 | E | validated | |
| UMLS | C4749853 | E | validated | |
| GARD | 10591 | 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:262833Partial duplication of the long arm of chromosome 1 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 | 46 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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
25 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| Frequent (79-30%) | ||
| HP:0002007 | Frontal bossing | |
| HP:0000316 | Hypertelorism | |
| HP:0000256 | Macrocephaly | |
| Occasional (29-5%) | ||
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000717 | Autism | |
| HP:0000518 | Cataract | |
| HP:0000028 | Cryptorchidism | |
| HP:0001508 | Failure to thrive | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000501 | Glaucoma | |
| HP:0000738 | Hallucinations | |
| HP:0002827 | Hip dislocation | |
| HP:0001385 | Hip dysplasia | |
| HP:0000238 | Hydrocephalus | |
| HP:0001276 | Hypertonia | |
| HP:0000047 | Hypospadias | |
| HP:0001252 | Hypotonia | |
| HP:0100753 | Schizophrenia | |
| HP:0001250 | Seizure | |
| HP:0000486 | Strabismus | |
| HP:0001762 | Talipes equinovarus | |
| HP:0001636 | Tetralogy of Fallot | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/250994
- This record as JSON: /data/d/250994.json