ORPHA:1727
22q11.2 duplication syndrome
Synonyms: 22q11.2 microduplication syndrome · Dup(22)(q11) · Duplication 22q11.2 · Trisomy 22q11.2
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare chromosomal anomaly characterized by an extremely variable clinical phenotype and may include heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 22q11.2 duplication syndrome | 22q11.2 microduplication syndrome · Dup(22)(q11) · Duplication 22q11.2 · Trisomy 22q11.2 |
| fr | Syndrome de duplication 22q11.2 | Dup(22)(q11) · Duplication 22q11.2 · Syndrome de microduplication 22q11.2 · Trisomie 22q11.2 |
| de | 22q11.2-Duplikationssyndrom | 22q11-Mikroduplikations-Syndrom · Dup(22)(q11) · Duplikation 22q11.2 · Trisomie 22q11.2 · dup22q11-Syndrom |
| es | Síndrome de duplicación 22q11.2 | Dup(22)(q11) · Duplicación 22q11.2 · Síndrome de microduplicación 22q11.2 · Trisomía 22q11.2 |
| it | Sindrome da duplicazione 22q11.2 | Dup22q11 · Duplicazione 22q11.2 · Trisomia 22q11.2 |
| nl | 22q11.2-duplicatiesyndroom | 22q11.2-microduplicatiesyndroom · Dup(22)(q11) · Duplicatie 22q11.2 · Trisomie 22q11.2 |
| pt | Síndrome de duplicação 22q11.2 | Síndrome de microduplicação 22q11.2 |
| pl | Zespół mikroduplikacji 22q11.2 | Dup(22)(q11) · Duplikacja 22q11.2 · Trisomia 22q11.2 |
| cs | Mikroduplikační syndrom 22q11.2 | Dup(22)(q11) · Duplikace 22q11.2 · Trizomie 22q11.2 |
| uk | Синдром дуплікації 22q11.2 | Синдром мікродуплікації 22q11.2 · Dup(22)(q11) · Дуплікація 22q11.2 · Трисомія 22q11.2 |
| zh | 22q11.2微重复综合征 | 22q11.2重复 |
| tr | 22q11.2 mikroduplikasyon sendromu | Dup (22) (q11) · Trizomi 22q11.2 · Duplikasyon 22q11.2 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608363 | E | validated | |
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| ICD-11 | LD41.M | NTBT | index | validated |
| MONDO | 0012020 | E | validated | |
| MeSH | C567224 | E | validated | |
| UMLS | C2675369 | E | validated | |
| GARD | 10557 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:263004Partial duplication of the long arm of chromosome 22 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TBX1 | Role in the phenotype of | Assessed | HGNC:11592 | ENSG00000184058 | 602054 | 22q11.21 | T-box transcription factor 1 | 19254783[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 216 cases | Worldwide | Case(s) | Validated | 36735193[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | 36735193[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.
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HPO phenotypes
40 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000600 | Abnormality of the pharynx | |
| HP:0000175 | Cleft palate | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000286 | Epicanthus | |
| HP:0001263 | Global developmental delay | |
| HP:0000348 | High forehead | |
| HP:0001611 | Hypernasal speech | |
| HP:0000316 | Hypertelorism | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0011800 | Midface retrusion | |
| HP:0000275 | Narrow face | |
| Occasional (29-5%) | ||
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0010978 | Abnormality of immune system physiology | |
| HP:0009908 | Anterior creases of earlobe | |
| HP:0000739 | Anxiety | |
| HP:0010515 | Aplasia/Hypoplasia of the thymus | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000717 | Autism | |
| HP:0000722 | Compulsive behaviors | |
| HP:0100627 | Displacement of the urethral meatus | |
| HP:0001510 | Growth delay | |
| HP:0000365 | Hearing impairment | |
| HP:0000126 | Hydronephrosis | |
| HP:0004383 | Hypoplastic left heart | |
| HP:0011611 | Interrupted aortic arch | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000508 | Ptosis | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0000319 | Smooth philtrum | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0001669 | Transposition of the great arteries | |
| HP:0008661 | Urethral stenosis | |
| HP:0001629 | Ventricular septal defect | |
| HP:0000445 | Wide nose | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1727
- This record as JSON: /data/d/1727.json