Distal duplication 18q syndrome
Synonyms: Distal trisomy 18q · Telomeric duplication 18q · Trisomy 18qter
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, partial autosomal trisomy characterized by a variable phenotype that includes hypotonia, motor delay, mild to severe intellectual disability, seizures, variable cerebral anomalies, finger/toe syndactyly, fifth finger clinodactyly, strabismus, short neck and dysmorphic facial features.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal duplication 18q syndrome | Distal trisomy 18q · Telomeric duplication 18q · Trisomy 18qter |
| fr | Syndrome de duplication distale 18q | Duplication 18qter · Duplication télomérique 18q · Trisomie 18qter · Trisomie distale 18q |
| de | Distale Duplikation 18q | Distale Trisomie 18q · Telomere Duplikation 18q · Trisomie 18qter |
| es | Síndrome de duplicación terminal 18q | Trisomía 18qter · Trisomía terminal 18q |
| it | Sindrome duplicazione 18q distale | Duplicazione 18q telomerica · Trisomia 18q distale · Trisomia 18qter |
| nl | Distale duplicatie 18q-syndroom | Distale trisomie 18q · Telomerische duplicatie 18q · Trisomie 18qter |
| pt | Duplicação distal 18q | Duplicação telomérica 18q · Trissomia 18qter · Trissomia distal 18q |
| pl | Zespół duplikacji dystalnej 18q | Dystalna duplikacja 18q · Telomerowa duplikacja 18q · Trisomia 18qter |
| cs | Distální trizomie 18q | Distální duplikace 18q · Telomerická duplikace 18q · Trizomie 18qter |
| uk | Дистальна дуплікація 18q | Дистальна трисомія 18q · Теломерна дуплікація 18q · Трисомія 18qter |
| zh | 18号染色体长臂远端三体 | 18号染色体长臂远端重复 |
| tr | Distal trizomi 18q | Trizomi 18qter · Distal duplikasyon 18q · Telomerik duplikasyon 18q |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| MONDO | 0015741 | E | validated | |
| UMLS | C5190516 | 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:262977Partial duplication of the long arm of chromosome 18 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 |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.4 / 100 000 | Worldwide | Value and class | Validated | 36064004[PMID]_ORPHANET |
| Point prevalence | Unknown | — | 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
31 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006482 | Abnormal dental morphology | |
| HP:0010720 | Abnormal hair pattern | |
| HP:0000463 | Anteverted nares | |
| HP:0000670 | Carious teeth | |
| HP:0100543 | Cognitive impairment | |
| HP:0000028 | Cryptorchidism | |
| HP:0000268 | Dolichocephaly | |
| HP:0001263 | Global developmental delay | |
| HP:0000347 | Micrognathia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0004622 | Progressive intervertebral space narrowing | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000311 | Round face | |
| HP:0000470 | Short neck | |
| HP:0003196 | Short nose | |
| HP:0000474 | Thickened nuchal skin fold | |
| HP:0000325 | Triangular face | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0001166 | Arachnodactyly | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000218 | High palate | |
| HP:0008736 | Hypoplasia of penis | |
| Occasional (29-5%) | ||
| HP:0000055 | Abnormality of female external genitalia | |
| HP:0000453 | Choanal atresia | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0004097 | Deviation of finger | |
| HP:0000612 | Iris coloboma | |
| HP:0001176 | Large hands | |
| HP:0000767 | Pectus excavatum | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1716
- This record as JSON: /data/d/1716.json