Distal 22q11.2 microduplication syndrome
Synonyms: Distal dup(22)(q11.2) · Distal trisomy 22q11.2
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Childhood, Infancy, Neonatal
- Status
- active
A rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, behavioral anomalies, and non-specific craniofacial dysmorphism. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, and seizures have also been reported. Penetrance is incomplete. In 70% of cases, the duplication is inherited from as asymptomatic parent.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal 22q11.2 microduplication syndrome | Distal dup(22)(q11.2) · Distal trisomy 22q11.2 |
| fr | Syndrome de microduplication 22q11.2 distale | Dup(22)(q11.2) distale · Trisomie 22q11.2 distale |
| de | Mikroduplikationssyndrom 22q11.2, distal | Dup(22)(q11.2) · Trisomie 22q11.2, distal |
| es | Síndrome de microduplicación terminal 22q11.2 | Dup(22)(q11.2) terminal · Trisomía terminal 22q11.2 |
| it | Sindrome da microduplicazione 22q11.2 distale | Dup(22)(q11.2) distale · Trisomia 22q11.2 distale |
| nl | Distale 22q11.2-microduplicatiesyndroom | Distale dup(22)(q11.2) · Distale trisomie 22q11.2 |
| pt | Síndrome de microduplicação distal 22q11.2 | Trissomia distal 22q11.2 |
| pl | Zespół mikroduplikacji dystalnej 22q11.2 | Dystalna dup(22)(q11.2) · Trisomia dystalna 22q11.2 |
| cs | Syndrom distální mikroduplikace 22q11.2 | Distální dup(22)(q11.2) · Distální trizomie 22q11.2 |
| uk | Синдром дистальної мікродуплікації 22q11.2 | Дистальна дуплікація (22)(q11.2) · Дистальна трисомія 22q11.2 |
| zh | 22q11.2远端微重复综合征 | 22q11.2远端三体 |
| tr | Distal 22q11.2 mikroduplikasyon sendromu | Distal dup (22) (q11.2) · Distal trizomi 22q11.2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| ICD-11 | LD41.M | NTBT | index | validated |
| MONDO | 0016846 | E | validated | |
| UMLS | C4706942 | 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:263004Partial duplication of the long arm of chromosome 22 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
57 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Occasional (29-5%) | ||
| HP:0011039 | Abnormal helix morphology | |
| HP:0100022 | Abnormality of movement | |
| HP:0009738 | Abnormality of the antihelix | |
| HP:0002023 | Anal atresia | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0004422 | Biparietal narrowing | |
| HP:0009795 | Branchial fistula | |
| HP:0000337 | Broad forehead | |
| HP:0000414 | Bulbous nose | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0001836 | Camptodactyly of toe | |
| HP:0000280 | Coarse facial features | |
| HP:0000028 | Cryptorchidism | |
| HP:0000490 | Deeply set eye | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0001260 | Dysarthria | |
| HP:0001618 | Dysphonia | |
| HP:0000286 | Epicanthus | |
| HP:0002007 | Frontal bossing | |
| HP:0001263 | Global developmental delay | |
| HP:0000218 | High palate | |
| HP:0000238 | Hydrocephalus | |
| HP:0000316 | Hypertelorism | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0002463 | Language impairment | |
| HP:0000343 | Long philtrum | |
| HP:0002162 | Low posterior hairline | |
| HP:0000369 | Low-set ears | |
| HP:0000256 | Macrocephaly | |
| HP:0000158 | Macroglossia | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000588 | Optic disc coloboma | |
| HP:0100540 | Palpebral edema | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000411 | Protruding ear | |
| HP:0000960 | Sacral dimple | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0000322 | Short philtrum | |
| HP:0000319 | Smooth philtrum | |
| HP:0000486 | Strabismus | |
| HP:0001182 | Tapered finger | |
| HP:0012471 | Thick vermilion border | |
| HP:0001770 | Toe syndactyly | |
| HP:0000325 | Triangular face | |
| HP:0005180 | Tricuspid regurgitation | |
| HP:0001704 | Tricuspid valve prolapse | |
| HP:0000122 | Unilateral renal agenesis | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0001629 | Ventricular septal defect | |
| HP:0000465 | Webbed neck | |
| HP:0000445 | Wide nose | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/261337
- This record as JSON: /data/d/261337.json