Trisomy 8q syndrome
Synonyms: Duplication 8q
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Neonatal
- Status
- active
A partial autosomal trisomy characterized by developmental delay, intellectual disability, prenatal and postnatal growth retardation, congenital heart, genitourinary and skeletal anomalies, and dysmorphic facial features, including high and broad forehead, hypertelorism, upslanting palpebral fissures, broad nose, dysplastic and low set ears, micrognathia. Phenotypic features vary in relation to the duplication size.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Trisomy 8q syndrome | Duplication 8q |
| fr | Syndrome de trisomie 8q | = en |
| de | Trisomie 8q | Duplikation 8q |
| es | Síndrome de trisomía 8q | Duplicación 8q |
| it | Sindrome trisomia 8q | Duplicazione 8q |
| nl | Trisomie 8q-syndroom | Duplicatie 8q |
| pt | Trissomia 8q | Duplicação 8q · Trissomia 8q |
| pl | Zespół trisomii 8q | Duplikacja 8q |
| cs | Trizomie 8q | Duplikace 8q |
| uk | Трисомія 8q | Дуплікація 8q |
| zh | 8号染色体长臂三体 | 8号染色体长臂重复 |
| tr | Trizomi 8q | Duplikasyon 8q |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.2 | NTBT | attributed | validated |
| ICD-11 | LD41.70 | E | specific | validated |
| MONDO | 0015772 | E | validated | |
| MeSH | C538020 | E | validated | |
| UMLS | C0795829 | E | validated | |
| GARD | 5362 | 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:262896Partial duplication of the long 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | 15581839[PMID] | |
| 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
30 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002916 | Abnormality of chromosome segregation | |
| HP:0010751 | Chin dimple | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0001263 | Global developmental delay | |
| HP:0000348 | High forehead | |
| HP:0000316 | Hypertelorism | |
| HP:0100818 | Long thorax | |
| HP:0000347 | Micrognathia | |
| HP:0000470 | Short neck | |
| HP:0001328 | Specific learning disability | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000190 | Abnormal oral frenulum morphology | |
| HP:0010297 | Bifid tongue | |
| HP:0000175 | Cleft palate | |
| HP:0000028 | Cryptorchidism | |
| HP:0100627 | Displacement of the urethral meatus | |
| HP:0000218 | High palate | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0001387 | Joint stiffness | |
| HP:0100335 | Non-midline cleft of the upper lip | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000411 | Protruding ear | |
| Occasional (29-5%) | ||
| HP:0012062 | Bone cyst | |
| HP:0001156 | Brachydactyly | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0006191 | Deep palmar crease | |
| HP:0002475 | Myelomeningocele | |
| HP:0000202 | Orofacial cleft | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1752
- This record as JSON: /data/d/1752.json