Distal duplication 19q syndrome
Synonyms: Distal trisomy 19q · Telomeric duplication 19q · Trisomy 19qter
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal duplication 19q syndrome | Distal trisomy 19q · Telomeric duplication 19q · Trisomy 19qter |
| fr | Syndrome de duplication distale 19q | Duplication 19qter · Duplication télomérique 19q · Trisomie 19qter · Trisomie distale 19q · Trisomie télomérique 19q |
| de | Distale Duplikation 19q | Distale Trisomie 19q · Telomere Duplikation 19q · Trisomie 19qter |
| es | Síndrome de duplicación terminal 19q | Duplicación terminal 19q · Trisomía 19qter · Trisomía terminal 19q |
| it | Sindrome duplicazione 19q distale | Trisomia distale 19q · Duplicazione 19q telomerica · Trisomia 19qter |
| nl | Distale duplicatie 19q-syndroom | Distale trisomie 19q · Telomerische duplicatie 19q · Trisomie 19qter |
| pt | Duplicação distal 19q | Duplicação telomérica 19q · Trissomia 19qter · Trissomia distal 19q |
| pl | Zespół duplikacji dystalnej 19q | Duplikacja dystalna 19q · Duplikacja telomerowa 19q · Trisomia 19qter |
| cs | Distální trizomie 19q | Distální duplikace 19q · Telomerická duplikace 19q · Trizomie 19qter |
| uk | Дистальна дуплікація 19q | Дистальна трисомія 19q · Теломерна дуплікація 19q · Трисомія 19qter |
| zh | 19号染色体长臂远端三体 | 19号染色体长臂末端着丝粒重复 |
| tr | Distal trizomi 19q | Trizomi 19qter · Distal duplikasyon 19q · Telomerik duplikasyon 19q |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| ICD-11 | LD41.J0 | NTBT | index | validated |
| MONDO | 0015744 | E | validated | |
| UMLS | C4707664 | 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:262986Partial duplication of the long arm of chromosome 19 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 | 36 cases | Worldwide | Case(s) | Validated | 25606462[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 25606462[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/1717
- This record as JSON: /data/d/1717.json