Distal duplication 22q syndrome
Synonyms: Distal trisomy 22q · Telomeric duplication 22q · Trisomy 22qter
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disabilty and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal duplication 22q syndrome | Distal trisomy 22q · Telomeric duplication 22q · Trisomy 22qter |
| fr | Syndrome de duplication distale 22q | Duplication 22qter · Duplication télomérique 22q · Trisomie 22qter · Trisomie distale 22q · Trisomie télomérique 22q |
| de | Distale Duplikation 22q | Distale Trisomie 22q · Duplikation 22q, distale · Telomere Duplikation 22q · Trisomie 22qter |
| es | Síndrome de duplicación terminal 22q | Trisomía 22qter · Trisomía terminal 22q |
| it | Sindrome duplicazione 22q distale | Trisomia 22q distale · Duplicazione 22q telomerica · Trisomia 22qter |
| nl | Distale duplicatie 22q-syndroom | Distale trisomie 22q · Telomerische duplicatie 22q · Trisomie 22qter |
| pt | Duplicação distal 22q | Duplicação telomérica 22q · Trissomia 22qter · Trissomia distal 22q |
| pl | Zespół duplikacji dystalnej 22q | Duplikacja dystalna 22q · Duplikacja telomerowa 22q · Trisomia 22qter |
| cs | Distální trizomie 22q | Distální duplikace 22q · Telomerická duplikace 22q · Trizomie 22qter |
| uk | Дистальна дуплікація 22q | Дистальна трисомія 22q · Теломерна дуплікація 22q · Трисомія 22qter |
| zh | 22号染色体长臂远端三体 | 22号染色体长臂端粒重复 |
| tr | Distal trizomi 22q | Trizomi 22qter · Distal duplikasyon 22q · Telomerik duplikasyon 22q |
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 | attributed | validated |
| MONDO | 0019889 | E | validated | |
| UMLS | C4706936 | 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
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96109
- This record as JSON: /data/d/96109.json