Distal duplication 14q syndrome
Synonyms: Telomeric duplication 14q · Trisomy 14qter
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Distal trisomy 14q is a rare, partial duplication of the long arm of chromosome 14 characterized by variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbous nose, micrognathia, sparse hair and eyebrows), congenital heart defects, spasticity and hyperreflexia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal duplication 14q syndrome | Telomeric duplication 14q · Trisomy 14qter |
| fr | Syndrome de duplication distale 14q | Duplication 14qter · Duplication télomérique 14q · Trisomie 14qter · Trisomie distale 14q |
| de | Distale Duplikation 14q | Telomere Duplikation 14q · Trisomie 14qter |
| es | Síndrome de duplicación terminal 14q | Trisomía 14qter |
| it | Sindrome duplicazione 14q distale | Duplicazione 14q telomerica · Trisomia 14qter |
| nl | Distale duplicatie 14q-syndroom | Telomerische duplicatie 14q · Trisomie 14qter |
| pt | Duplicação distal 14q | Duplicação telomérica 14q · Trissomia 14qter · Trissomia distal 14q |
| pl | Zespół duplikacji dystalnej 14q | Dystalna duplikacja 14q · Telomerowa duplikacja 14q · Trisomia 14qter |
| cs | Distální trizomie 14q | Distální duplikace 14q · Telomerická duplikace 14q · Trizomie 14qter |
| uk | Дистальна дуплікація 14q | Теломерна дуплікація 14q · Трисомія 14qter |
| zh | 14号染色体长臂远端三体 | 14号染色体长臂末端着丝粒重复 |
| tr | Distal trizomi 14q | Trizomi 14qter · Distal duplikasyon 14q · Telomerik duplikasyon 14q |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| MONDO | 0015726 | E | validated | |
| MeSH | C538034 | E | validated | |
| UMLS | C2931702 | 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:262941Partial duplication of the long arm of chromosome 14 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:98574Syndromic epicanthus
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
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 | 25 cases | Worldwide | Case(s) | Validated | 6500567[PMID]_3612709[PMID]_27590390[PMID]_1524416[PMID]_ 2227953[PMID]_6196971[PMID]_18434272[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 6500567[PMID]_3612709[PMID]_27590390[PMID]_1524416[PMID]_ 2227953[PMID]_6196971[PMID]_18434272[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
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002916 | Abnormality of chromosome segregation | |
| HP:0100543 | Cognitive impairment | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0001679 | Abnormal aortic morphology | |
| HP:0002101 | Abnormal lung lobation | |
| HP:0010935 | Abnormality of the upper urinary tract | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0000501 | Glaucoma | |
| HP:0000365 | Hearing impairment | |
| HP:0001643 | Patent ductus arteriosus | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1705
- This record as JSON: /data/d/1705.json