Maternal uniparental disomy of chromosome 20 syndrome
Synonyms: Maternal UPD(20) · UPD(20)mat
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Maternal uniparental disomy of chromosome 20 syndrome | Maternal UPD(20) · UPD(20)mat |
| fr | Syndrome de disomie uniparentale maternelle du chromosome 20 | UPD(20) maternelle · UPD(20)mat |
| de | Uniparentale Disomie 20, maternale | UPD(20)mat |
| es | Síndrome de disomía uniparental materna del cromosoma 20 | UPD(20) materna · UPD(20)mat |
| it | Sindrome disomia uniparentale materna del cromosoma 20 | UPD(20)mat · UPD(20) materna |
| nl | Maternale uniparentale disomie van chromosoom 20-syndroom | Maternale UPD(20) · UPD(20)mat |
| pt | Dissomia uniparental de origem materna, cromossoma 20 | |
| pl | Zespół jednorodzicielskiej disomii chromosomu 20 pochodzenia matczynego | UPD(20)mat · Matczyna UPD(20) |
| cs | Maternální uniparentální dizomie chromozomu 20 | Maternální UPD20 · UPD(20)mat |
| uk | Материнська уніпарентна дисомія хромосоми 20 | Материнська UPD(20) · UPD(20)mat |
| zh | 母源性20号染色体单亲二体 | 母源性UPD(20) |
| tr | 20. kromozomun maternal uniparental dizomisi | UPD(20)mat · Maternal UPD (20) |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617352 | E | validated | |
| ICD-10 | Q99.8 | NTBT | attributed | validated |
| ICD-11 | LD45.0 | NTBT | index | validated |
| MONDO | 0019917 | E | validated | |
| UMLS | C4275029 | 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:98153Maternal uniparental disomy 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 | 12 cases | Worldwide | Case(s) | Validated | 26248010[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26248010[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
15 annotations · validated 2025-10-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0008897 | Postnatal growth retardation | |
| Frequent (79-30%) | ||
| HP:0030084 | Clinodactyly | |
| HP:0004325 | Decreased body weight | |
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001562 | Oligohydramnios | |
| HP:0011220 | Prominent forehead | |
| HP:0034323 | Reduced circulating growth hormone concentration | |
| HP:0004322 | Short stature | |
| HP:0001518 | Small for gestational age | |
| HP:0000325 | Triangular face | |
| Occasional (29-5%) | ||
| HP:0100555 | Asymmetric growth | |
| HP:0000347 | Micrognathia | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 33920573[PMID]_29878129[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96186
- This record as JSON: /data/d/96186.json