Mosaic trisomy 20 syndrome
Synonyms: Mosaic trisomy chromosome 20 · Trisomy 20 mosaicism
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mosaic trisomy 20 syndrome | Mosaic trisomy chromosome 20 · Trisomy 20 mosaicism |
| fr | Syndrome de trisomie 20 en mosaïque | |
| de | Mosaik-Trisomie 20 | Mosaik-Trisomie Chromosom 20 |
| es | Síndrome de trisomía 20 en mosaico | Trisomía del cromosoma 20 en mosaico |
| it | Sindrome trisomia 20 in mosaico | Trisomia del cromosoma 20 in mosaico · Trisomia 20 in mosaico |
| nl | Mozaïektrisomie 20-syndroom | Mozaïektrisomie chromosoom 20 · Trisomie 20 mozaïcisme |
| pt | Trissomia 20 em mosaico | |
| pl | Zespół mozaikowej trisomii chromosomu 20 | = en |
| cs | Mozaika trizomie 20 | = en |
| uk | Мозаїчна трисомія 20 | Мозаїчна трисомія хромосоми 20 · Трисомія 20 мозаїцизм |
| zh | 20号染色体嵌合三体 | 20号染色体嵌合三体 |
| tr | Mozaik trizomi 20 | Trizomi 20 mozaisizmi · Mozaik trizomi kromozomu 20 |
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 | 0015764 | E | validated | |
| MeSH | C535372 | E | validated | |
| UMLS | C0265479 | 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_23548241[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
39 annotations · validated 2020-12-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008947 | Floppy infant | |
| Frequent (79-30%) | ||
| HP:0002143 | Abnormality of the spinal cord | |
| HP:0012450 | Chronic constipation | |
| HP:0007483 | Depigmentation/hyperpigmentation of skin | |
| HP:0200021 | Down-sloping shoulders | |
| HP:0007535 | Hypopigmented streaks | |
| HP:0011342 | Mild global developmental delay | |
| HP:0000278 | Retrognathia | |
| Occasional (29-5%) | ||
| HP:0001633 | Abnormal mitral valve morphology | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0410030 | Cleft lip | |
| HP:0000175 | Cleft palate | |
| HP:0030084 | Clinodactyly | |
| HP:0004484 | Craniofacial asymmetry | |
| HP:0000028 | Cryptorchidism | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001260 | Dysarthria | |
| HP:0030732 | Dysplastic tricuspid valve | |
| HP:0002949 | Fused cervical vertebrae | |
| HP:0000365 | Hearing impairment | |
| HP:0000085 | Horseshoe kidney | |
| HP:0001252 | Hypotonia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0002808 | Kyphosis | |
| HP:0006394 | Limited pronation/supination of forearm | |
| HP:0000472 | Long neck | |
| HP:0000347 | Micrognathia | |
| HP:0001270 | Motor delay | |
| HP:0000774 | Narrow chest | |
| HP:0002650 | Scoliosis | |
| HP:0001328 | Specific learning disability | |
| HP:0003416 | Spinal canal stenosis | |
| HP:0000486 | Strabismus | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0001629 | Ventricular septal defect | |
| HP:0002948 | Vertebral fusion | |
| HP:0003422 | Vertebral segmentation defect | |
| HP:0006610 | Wide intermamillary distance | |
| Excluded (0%) | ||
| HP:0001249 | Intellectual disability | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 18203170[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1724
- This record as JSON: /data/d/1724.json