Mosaic trisomy 7 syndrome
Synonyms: Mosaic trisomy chromosome 7 · Trisomy 7 mosaicism
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mosaic trisomy 7 syndrome | Mosaic trisomy chromosome 7 · Trisomy 7 mosaicism |
| fr | Syndrome de trisomie 7 en mosaïque | |
| de | Mosaik-Trisomie 7 | Mosaik-Trisomie Chromosom 7 |
| es | Síndrome de trisomía 7 en mosaico | Trisomía del cromosoma 7 en mosaico |
| it | Sindrome trisomia 7 in mosaico | Trisomia 7 in mosaico · Trisomia del cromosoma 7 in mosaico |
| nl | Mozaïektrisomie 7-syndroom | Mozaïektrisomie chromosoom 7 · Trisomie 7 mozaïcisme |
| pt | Trissomia 7 em mosaico | |
| pl | Zespół mozaikowej trisomii chromosomu 7 | = en |
| cs | Mozaika trizomie 7 | = en |
| uk | Мозаїчна трисомія 7 | Мозаїчна трисомія хромосоми 7 · Трисомія 7 мозаїцизм |
| zh | 7号染色体嵌合三体 | 7号染色体嵌合三体 |
| tr | Mozaik trizomi 7 | Trizomi 7 mozaisizmi · Mozaik trizomi kromozomu 7 |
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 | 0015771 | E | validated | |
| MeSH | C537822 | E | validated | |
| UMLS | C2931631 | E | validated | |
| GARD | 5354 | 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 | 31 cases | Worldwide | Case(s) | Validated | 28099615[PMID]_21056320[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28099615[PMID]_21056320[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
18 annotations · validated 2025-04-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0007483 | Depigmentation/hyperpigmentation of skin | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0007988 | Macular hypopigmentation | |
| HP:0008897 | Postnatal growth retardation | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0000175 | Cleft palate | |
| HP:0006297 | Enamel hypoplasia | |
| HP:0000324 | Facial asymmetry | |
| HP:0010878 | Fetal cystic hygroma | |
| HP:0000822 | Hypertension | |
| HP:0000998 | Hypertrichosis | |
| HP:0000023 | Inguinal hernia | |
| HP:0000256 | Macrocephaly | |
| HP:0000347 | Micrognathia | |
| HP:0011342 | Mild global developmental delay | |
| HP:0001622 | Premature birth | |
| HP:0000110 | Renal dysplasia | |
| HP:0001518 | Small for gestational age | |
Annotation source: 21056320[PMID]_26283298[PMID]_28099615[PMID]_38576814[PMID]_33374124[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1747
- This record as JSON: /data/d/1747.json