ORPHA:261295
20p12.3 microdeletion syndrome
Synonyms: Del(20)(p12.3) · Monosomy 20p12.3
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 20p12.3 microdeletion syndrome | Del(20)(p12.3) · Monosomy 20p12.3 |
| fr | Syndrome de microdélétion 20p12.3 | Del(20)(p12.3) · Monosomie 20p12.3 |
| de | Mikrodeletionssyndrom 20p12.3 | Del(20)(p12.3) · Monosomie 20p12.3 |
| es | Síndrome de microdeleción 20p12.3 | Del(20)(p12.3) · Monosomía 20p12.3 |
| it | Sindrome da microdelezione 20p12.3 | Del(20)(p12.3) · Monosomia 20p12.3 |
| nl | 20p12.3-microdeletiesyndroom | Del(20)(p12.3) · Monosomie 20p12.3 |
| pt | Síndrome de microdeleção 20p12.3 | |
| pl | Zespół mikrodelecji 20p12.3 | Del(20)(p12.3) · Monosomia 20p12.3 |
| cs | Syndrom mikrodelece 20p12.3 | Del(20)(p12.3) · Monozomie 20p12.3 |
| uk | Синдром мікроделеції 20p12.3 | Del(20)(p12.3) · Моносомія 20p12.3 |
| zh | 20p12.3微缺失综合征 | 20p12.3单体 |
| tr | 20p12.3 mikrodelesyon sendromu | Del (20) (p12.3) · Monozomi 20p12.3 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617877 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.L1 | NTBT | index | validated |
| MONDO | 0016841 | E | validated | |
| UMLS | C4304539 | E | validated | |
| GARD | 12492 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:261992Partial deletion of the short arm of chromosome 20 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BMP2 | Role in the phenotype of | Assessed | HGNC:1069 | ENSG00000125845 | 112261 | 20p12.3 | bone morphogenetic protein 2 | 18812404[PMID]_21671386[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 18812404[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18812404[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.
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HPO phenotypes
23 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0000316 | Hypertelorism | |
| Frequent (79-30%) | ||
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000286 | Epicanthus | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0000256 | Macrocephaly | |
| HP:0000272 | Malar flattening | |
| HP:0000160 | Narrow mouth | |
| HP:0004322 | Short stature | |
| HP:0001716 | Wolff-Parkinson-White syndrome | |
| Occasional (29-5%) | ||
| HP:0001631 | Atrial septal defect | |
| HP:0010059 | Broad hallux phalanx | |
| HP:0011304 | Broad thumb | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000293 | Full cheeks | |
| HP:0001252 | Hypotonia | |
| HP:0000343 | Long philtrum | |
| HP:0008551 | Microtia | |
| HP:0000768 | Pectus carinatum | |
| HP:0001250 | Seizure | |
| HP:0000391 | Thickened helices | |
| HP:0002119 | Ventriculomegaly | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 18812404[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/261295
- This record as JSON: /data/d/261295.json