Distal duplication 2p syndrome
Synonyms: Trisomy 2pter · Distal trisomy 2p · Telomeric duplication 2p
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal duplication 2p syndrome | Trisomy 2pter · Distal trisomy 2p · Telomeric duplication 2p |
| fr | Syndrome de duplication distale 2p | Duplication 2pter · Duplication télomérique 2p · Trisomie 2pter · Trisomie distale 2p · Trisomie télomérique 2p |
| de | Distale Duplikation 2p | Distale Trisomie 2p · Duplikation 2p, distale · Telomere Duplikation 2p · Trisomie 2pter |
| es | Síndrome de duplicación terminal 2p | Trisomía 2pter · Trisomía terminal 2p |
| it | Sindrome duplicazione 2p distale | Trisomia 2p distale · Duplicazione 2p telomerica · Trisomia 2pter |
| nl | Distale duplicatie 2p-syndroom | Distale trisomie 2p · Telomerische duplicatie 2p · Trisomie 2pter |
| pt | Duplicação distal 2p | Duplicação telomérica 2p · Trissomia 2pter · Trissomia distal 2p |
| pl | Zespół duplikacji dystalnej 2p | Duplikacja dystalna 2p · Duplikacja telomerowa 2p · Trisomia 2pter |
| cs | Distální trizomie 2p | Distální duplikace 2p · Telomerická duplikace 2p · Trizomie 2pter |
| uk | Дистальна дуплікація 2p | Дистальна трисомія 2р · Теломерна дуплікація 2p · Трисомія 2pter |
| zh | 2号染色体短臂远端三体 | 2号染色体端粒重复 |
| tr | Distal trizomi 2p | Trizomi 2pter · Distal duplikasyon 2p · Telomerik duplikasyon 2p |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| ICD-11 | LD41.11 | NTBT | index | validated |
| MONDO | 0019871 | E | validated | |
| UMLS | C4706937 | 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 (2):
- ORPHA:98642Chromosomal anomaly with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:262698Partial duplication of the short arm of chromosome 2 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 | 20 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96070
- This record as JSON: /data/d/96070.json