8p23.1 duplication syndrome
Synonyms: Dup(8)(p23.1p23.1) · Trisomy 8p23.1
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 8p23.1 duplication syndrome | Dup(8)(p23.1p23.1) · Trisomy 8p23.1 |
| fr | Syndrome de duplication 8p23.1 | Dup(8)(p23.1p23.1) · Trisomie 8p23.1 |
| de | Mikroduplikationssyndrom 8p23.1 | Dup(8)(p23.1p23.1) · Trisomie 8p23.1 |
| es | Síndrome de duplicación 8p23.1 | Dup(8)(p23.1p23.1) · Trisomía 8p23.1 |
| it | Sindrome da duplicazione 8p23.1 | Dup(8)(p23.1p23.1) · Trisomia 8p23.1 |
| nl | 8p23.1-duplicatiesyndroom | Dup(8)(p23.1) · Trisomie 8p23.1 |
| pt | Síndrome de microduplicação 8p23.1 | Trissomia 8p23.1 |
| pl | Zespół mikroduplikacji 8p23.1 | Dup(8)(p23.1) · Trisomia 8p23.1 |
| cs | Syndrom duplikace 8p23.1 | Dup(8)(p23.1p23.1) · Trizomie 8p23.1 |
| uk | Синдром дуплікації 8p23.1 | Dup(8)(p23.1p23.1) · Трисомія 8p23.1 |
| zh | 染色体8p23.1重复综合征 | 8p23.1重复 |
| tr | 8p23.1 duplikasyon sendromu | Trizomi 8p23.1 · Dup (8) (p23.1p23.1) |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| ICD-11 | LD41.71 | NTBT | index | validated |
| MONDO | 0016659 | E | validated | |
| UMLS | C4707330 | E | validated | |
| GARD | 10304 | 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:262758Partial duplication of the short arm of chromosome 8 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.72 / 100 000 | Worldwide | Value and class | Validated | 23345203[PMID] |
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
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0001263 | Global developmental delay | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0001249 | Intellectual disability | |
| HP:0002463 | Language impairment | |
| Occasional (29-5%) | ||
| HP:0000846 | Adrenal insufficiency | |
| HP:0000490 | Deeply set eye | |
| HP:0100777 | Exostoses | |
| HP:0000365 | Hearing impairment | |
| HP:0000126 | Hydronephrosis | |
| HP:0000316 | Hypertelorism | |
| HP:0000343 | Long philtrum | |
| HP:0001642 | Pulmonic stenosis | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0012471 | Thick vermilion border | |
| HP:0001770 | Toe syndactyly | |
| HP:0001629 | Ventricular septal defect | |
| HP:0000445 | Wide nose | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/251076
- This record as JSON: /data/d/251076.json