Trisomy 8p syndrome
Synonyms: Duplication 8p
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Trisomy 8p syndrome | Duplication 8p |
| fr | Syndrome de trisomie 8p | = en |
| de | Trisomie 8p | Duplikation 8p |
| es | Síndrome de trisomía 8p | Duplicación 8p |
| it | Sindrome trisomia 8p | Duplicazione 8p |
| nl | Trisomie 8p-syndroom | Duplicatie 8p |
| pt | Trissomia 8p | |
| pl | Zespół trisomii 8p | Duplikacja 8p |
| cs | Trizomie 8p | Duplikace 8p |
| uk | Трисомія 8p | Дуплікація 8p |
| zh | 8号染色体长臂三体 | 8p重复 |
| tr | Trizomi 8p | Duplikasyon 8p |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.2 | NTBT | attributed | validated |
| MONDO | 0017013 | E | validated | |
| MeSH | C538019 | E | validated | |
| UMLS | C0795825 | 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.7 / 100 000 | Worldwide | Value and class | Validated | 38622524[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
65 annotations · validated 2017-10-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002101 | Abnormal lung lobation | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0001734 | Annular pancreas | |
| HP:0000463 | Anteverted nares | |
| HP:0011466 | Aplasia/Hypoplasia of the gallbladder | |
| HP:0009913 | Aplasia/Hypoplasia of the tragus | |
| HP:0000483 | Astigmatism | |
| HP:0000193 | Bifid uvula | |
| HP:0000592 | Blue sclerae | |
| HP:0001156 | Brachydactyly | |
| HP:0000175 | Cleft palate | |
| HP:0040018 | Clinodactyly of hallux | |
| HP:0040022 | Clinodactyly of the 2nd finger | |
| HP:0011918 | Clinodactyly of the 4th toe | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0001864 | Clinodactyly of the 5th toe | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0002019 | Constipation | |
| HP:0000028 | Cryptorchidism | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0010945 | Fetal pyelectasis | |
| HP:0001290 | Generalized hypotonia | |
| HP:0030148 | Heart murmur | |
| HP:0001100 | Heterochromia iridis | |
| HP:0006801 | Hyperactive deep tendon reflexes | |
| HP:0000540 | Hypermetropia | |
| HP:0000316 | Hypertelorism | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0002162 | Low posterior hairline | |
| HP:0005495 | Metopic suture patent to nasal root | |
| HP:0000252 | Microcephaly | |
| HP:0000054 | Micropenis | |
| HP:0002828 | Multiple joint contractures | |
| HP:0000121 | Nephrocalcinosis | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0001845 | Overlapping toe | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000384 | Preauricular skin tag | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
| HP:0000278 | Retrognathia | |
| HP:0000960 | Sacral dimple | |
| HP:0010034 | Short 1st metacarpal | |
| HP:0004704 | Short fifth metatarsal | |
| HP:0004689 | Short fourth metatarsal | |
| HP:0000470 | Short neck | |
| HP:0003196 | Short nose | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0000486 | Strabismus | |
| HP:0000233 | Thin vermilion border | |
| HP:0000582 | Upslanted palpebral fissure | |
| Occasional (29-5%) | ||
| HP:0011939 | 3-4 finger cutaneous syndactyly | |
| HP:0011546 | Abnormal atrioventricular connection | |
| HP:0001711 | Abnormal left ventricle morphology | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0000633 | Decreased lacrimation | |
| HP:0005176 | Dysplastic aortic valve | |
| HP:0100790 | Hernia | |
| HP:0000238 | Hydrocephalus | |
| HP:0000126 | Hydronephrosis | |
| HP:0004794 | Malrotation of small bowel | |
| HP:0008609 | Morphological abnormality of the middle ear | |
| HP:0003006 | Neuroblastoma | |
| HP:0004969 | Peripheral pulmonary artery stenosis | |
| HP:0001250 | Seizure | |
| HP:0001636 | Tetralogy of Fallot | |
Annotation source: 527246[PMID]_7211950[PMID]_19041960[PMID]_2267231[PMID]_6982667[PMID]_1126055[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/264450
- This record as JSON: /data/d/264450.json