Mosaic trisomy 3 syndrome
Synonyms: Mosaic trisomy chromosome 3 · Trisomy 3 mosaicism
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mosaic trisomy 3 syndrome | Mosaic trisomy chromosome 3 · Trisomy 3 mosaicism |
| fr | Syndrome de duplication en mosaïque du chromosome 3 | |
| de | Mosaik-Trisomie 3 | Mosaik-Trisomie Chromosom 3 |
| es | Síndrome de trisomía 3 en mosaico | Trisomía del cromosoma 3 en mosaico |
| it | Sindrome trisomia 3 in mosaico | Trisomia del cromosoma 3 in mosaico · Trisomia 3 in mosaico |
| nl | Mozaïektrisomie 3-syndroom | Mozaïektrisomie chromosoom 3 · Trisomie 3 mozaïcisme |
| pt | Trissomia 3 em mosaico | |
| pl | Zespół mozaikowej trisomii chromosomu 3 | = en |
| cs | Mozaika trizomie 4 | = en |
| uk | Мозаїчна трисомія 3 | Мозаїчна трисомія хромосоми 3 · Трисомія 3 мозаїцизм |
| zh | 嵌合型3号染色体三体 | 嵌合性三号染色体三体 |
| tr | Mozaik trizomi 3 | Trizomi 3 mozaisizmi · 3. 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 | index | validated |
| MONDO | 0015060 | E | validated | |
| UMLS | C4707012 | E | validated | |
| GARD | 5342 | 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 15386452[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15386452[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
23 annotations · validated 2025-11-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0011220 | Prominent forehead | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0002829 | Arthralgia | |
| HP:0000175 | Cleft palate | |
| HP:0000589 | Coloboma | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0000501 | Glaucoma | |
| HP:0000365 | Hearing impairment | |
| HP:0002827 | Hip dislocation | |
| HP:0001249 | Intellectual disability | |
| HP:0002041 | Intractable diarrhea | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001382 | Joint hypermobility | |
| HP:0000369 | Low-set ears | |
| HP:0004395 | Malnutrition | |
| HP:0000545 | Myopia | |
| HP:0002650 | Scoliosis | |
| HP:0000322 | Short philtrum | |
| HP:0003298 | Spina bifida occulta | |
| HP:0001159 | Syndactyly | |
| Very rare (<4-1%) | ||
| HP:0004808 | Acute myeloid leukemia | |
Annotation source: 27004455[PMID]_27717910[PMID]_35294081[PMID]_15386452[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/100071
- This record as JSON: /data/d/100071.json