Mosaic trisomy 22 syndrome
Synonyms: Mosaic trisomy chromosome 22 · Trisomy 22 mosaicism
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Mosaic trisomy 22 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by prenatal and postnatal growth delay, mild to severe intellectual disability, hemiatrophy, webbed neck, ocular and cutaneous pigmentary anomalies, craniofacial dysmorphic features (e.g. microcephaly, upslanted palpebral fissures, ptosis, ear malformations, flat nasal bridge, micrognathia) and cardiac abnormalities (including ventricular and atrial septal defect, pulmonary or aortic stenosis). Hearing loss and limb malformations (e.g. cubitus valgus, syn/brachydactyly), as well as renal and genital anomalies, have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mosaic trisomy 22 syndrome | Mosaic trisomy chromosome 22 · Trisomy 22 mosaicism |
| fr | Syndrome de trisomie 22 en mosaïque | |
| de | Mosaik-Trisomie 22 | Mosaik-Trisomie Chromosom 22 |
| es | Síndrome de trisomía 22 en mosaico | Trisomía del cromosoma 22 en mosaico |
| it | Sindrome trisomia 22 in mosaico | Trisomia del cromosoma 22 in mosaico · Trisomia 22 in mosaico |
| nl | Mozaïektrisomie 22-syndroom | Trisomie 22 mozaïcisme · Mozaïektrisomie chromosoom 22 |
| pt | Trissomia 22 em mosaico | |
| pl | Zespół mozaikowej trisomii chromosomu 22 | = en |
| cs | Mozaiková trizomie 22 | = en |
| uk | Мозаїчна трисомія 22 | Мозаїчна трисомія хромосоми 22 · Трисомія 22 мозаїцизм |
| zh | 22号染色体嵌合体 | 嵌合型22号染色体三体 |
| tr | Mozaik trizomi 22 | Trizomi 22 mosaisizm · 22. kromozomun mozaik trizomisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.1 | NTBT | attributed | validated |
| ICD-11 | LD40.Y | NTBT | attributed | validated |
| MONDO | 0019869 | E | validated | |
| MeSH | C536796 | E | validated | |
| UMLS | C2931327 | E | validated | |
| GARD | 6085 | 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:98131Total autosomal trisomy 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 | 39 cases | Worldwide | Case(s) | Validated | 38540405[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 38540405[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96068
- This record as JSON: /data/d/96068.json