Mosaic trisomy 8 syndrome
Synonyms: Mosaic trisomy chromosome 8 · Trisomy 8 mosaicism · Warkany syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare autosomal anomaly defined by the presence of three copies of chromosome 8 in some cells of the body, and clinically characterized by facial dysmorphism, typically deep palmar and plantar creases, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mosaic trisomy 8 syndrome | Mosaic trisomy chromosome 8 · Trisomy 8 mosaicism · Warkany syndrome |
| fr | Syndrome de trisomie 8 en mosaïque | Syndrome de Warkany · Trisomie du chromosome 8 en mosaïque |
| de | Mosaik-Trisomie 8 | Mosaik-Trisomie Chromosom 8 · Warkany-Syndrom |
| es | Síndrome de trisomía 8 en mosaico | Síndrome de Warkany · Trisomía del cromosoma 8 en mosaico |
| it | Sindrome trisomia 8 in mosaico | Trisomia del cromosoma 8 in mosaico · Sindrome di Warkany · Trisomia 8 in mosaico |
| nl | Mozaïektrisomie 8-syndroom | Mozaïektrisomie chromosoom 8 · Syndroom van Warkany · Trisomie 8 mozaïcisme |
| pt | Trissomia 8 em mosaico | |
| pl | Zespół mozaikowej trisomii chromosomu 8 | Zespół Warkany |
| cs | Mozaiková trizomie 8 | Warkanyho syndrom |
| uk | Мозаїчна трисомія 8 | Мозаїчна трисомія хромосоми 8 · Трисомія 8 мозаїцизм · Синдром Варкані |
| zh | 8号染色体嵌合体 | 嵌合型8号染色体三体 |
| tr | Mozaik trizomi 8 | Warkany sendromu · Trizomi 8 mosaisizm · 8. kromozomun mozaik trizomisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.1 | NTBT | attributed | validated |
| ICD-11 | LD40.Y | NTBT | attributed | validated |
| MONDO | 0019867 | E | validated | |
| MeSH | C537940 | E | validated | |
| UMLS | C1096527 | E | validated | |
| GARD | 5359 | E | validated | |
| MedDRA | 10053916 | 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:98131Total autosomal trisomy 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 | 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
42 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002342 | Intellectual disability, moderate | |
| Frequent (79-30%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0009738 | Abnormality of the antihelix | |
| HP:0000463 | Anteverted nares | |
| HP:0000455 | Broad nasal tip | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0007957 | Corneal opacity | |
| HP:0006191 | Deep palmar crease | |
| HP:0001869 | Deep plantar creases | |
| HP:0000490 | Deeply set eye | |
| HP:0000268 | Dolichocephaly | |
| HP:0002007 | Frontal bossing | |
| HP:0000126 | Hydronephrosis | |
| HP:0000316 | Hypertelorism | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0000276 | Long face | |
| HP:0000400 | Macrotia | |
| HP:0000347 | Micrognathia | |
| HP:0000774 | Narrow chest | |
| HP:0003275 | Narrow pelvis bone | |
| HP:0006443 | Patellar aplasia | |
| HP:0000411 | Protruding ear | |
| HP:0002650 | Scoliosis | |
| HP:0000486 | Strabismus | |
| HP:0003422 | Vertebral segmentation defect | |
| HP:0000076 | Vesicoureteral reflux | |
| HP:0000445 | Wide nose | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0000175 | Cleft palate | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000028 | Cryptorchidism | |
| HP:0008734 | Decreased testicular size | |
| HP:0000365 | Hearing impairment | |
| HP:0000218 | High palate | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| HP:0000098 | Tall stature | |
Run the differential on the 1 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96061
- This record as JSON: /data/d/96061.json