ORPHA:231137
Silver-Russell syndrome due to 7p11.2p13 microduplication
Synonyms: Silver-Russell syndrome due to 7p11.2-p13 microduplication · Silver-Russell syndrome due to dup(7)(p11.2p13) · Silver-Russell syndrome due to trisomy 7p11.2-p13 · Silver-Russell syndrome due to trisomy 7p11.2p13
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
This disease is described under Silver-Russell syndrome
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Silver-Russell syndrome due to 7p11.2p13 microduplication | Silver-Russell syndrome due to 7p11.2-p13 microduplication · Silver-Russell syndrome due to dup(7)(p11.2p13) · Silver-Russell syndrome due to trisomy 7p11.2-p13 · Silver-Russell syndrome due to trisomy 7p11.2p13 |
| fr | Syndrome de Silver-Russell dû à une microduplication 7p11.2p13 | Syndrome de Silver-Russell dû à une trisomie 7p11.2p13 · Syndrome de Silver-Russell dû à une dup(7)(p11.2p13) · Syndrome de Silver-Russell dû à une microduplication 7p11.2-p13 · Syndrome de Silver-Russell dû à une trisomie 7p11.2-p13 |
| de | Silver-Russell-Syndrom durch Mikrodeletion 7p11.2p13 | Silver-Russell-Syndrom durch Trisomie 7p11.2-p13 · Silver-Russell-Syndrom durch dup(7)(p11.2p13) |
| es | Síndrome de Silver-Russell por microduplicación 7p11.2p13 | Síndrome de Silver-Russell por dup(7)(p11.2p13) · Síndrome de Silver-Russell por microduplicación 7p11.2-p13 · Síndrome de Silver-Russell por trisomía 7p11.2-p13 · Síndrome de Silver-Russell por trisomía 7p11.2p13 |
| it | Sindrome di Silver-Russell da microduplicazione 7p11.2p13 | Sindrome di Silver-Russell da dup(7)(p11.2p13) · Sindrome di Silver-Russell da microduplicazione 7p11.2-p13 · Sindrome di Silver-Russell da trisomia 7p11.2-p13 · Sindrome di Silver-Russell da trisomia 7p11.2p13 |
| nl | Syndroom van Silver-Russell als gevolg van 7p11.2p13 microduplicatie | Syndroom van Silver-Russell als gevolg van 7p11.2-p13 microduplicatie · Syndroom van Silver-Russell als gevolg van dup(7)(p11.2p13) · Syndroom van Silver-Russell als gevolg van trisomie 7p11.2-p13 · Syndroom van Silver-Russell als gevolg van trisomie 7p11.2p13 |
| pt | Síndrome de Silver-Russell por microduplicação 7p12 | |
| pl | Zespół Silvera i Russella z powodu mikroduplikacji 7p11.2p13 | Zespół Silvera i Russella z powodu dup(7)(p11.2p13) · Zespół Silvera i Russella z powodu mikroduplikacji 7p11.2-p13 · Zespół Silvera i Russella z powodu trisomii 7p11.2p13 · Zespół Silvera i Russella z powodu trisomii 7p11.2-p13 |
| cs | Silverův-Russellův syndrom způsobený mikroduplikací 7p11.2p13 | Silverův-Russellův syndrom způsobený mikroduplikací 7p11.2-p13 · Silverův-Russellův syndrom způsobený dup(7)(p11.2p13) · Silverův-Russellův syndrom způsobený trizomií 7p11.2-p13 · Silverův-Russellův syndrom způsobený trizomií 7p11.2p13 · Silver-Russellův syndrom způsobený mikroduplikací 7p11.2p13 · Silver-Russellův syndrom způsobený mikroduplikací 7p11.2-p13 · Silver-Russellův syndrom způsobený dup(7)(p11.2p13) · Silver-Russellův syndrom způsobený trisomií 7p11.2-p13 · Silver-Russellův syndrom způsobený trisomií 7p11.2p13 |
| uk | Синдром Сільвера-Рассела, зумовлений мікродуплікацією 7p11.2p13 | Синдром Сільвера-Рассела внаслідок мікродуплікації 7p11.2-p13 · Синдром Сільвера-Рассела внаслідок dup(7)(p11.2p13) · Синдром Сільвера-Рассела внаслідок трисомії 7p11.2p13 · Синдром Сільвера-Рассела внаслідок трисомії 7p11.2-p13 |
| zh | 7p11.2p13微重复所致Silver-Russell综合征 | 7p11.2p-13微重复所致Silver-Russell综合征 |
| tr | 7p11.2p13 mikroduplikasyonuna bağlı Silver-Russell sendromu | dup(7)(p11.2p13)'e bağlı Silver-Russell sendromu · Trizomi 7p11.2p13'e bağlı Silver-Russell sendromu · Trizomi 7p11.2-p13'e bağlı Silver-Russell sendromu · 7p11.2-p13 mikroduplikasyonuna bağlı Silver-Russell sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 0016479 | E | validated | |
| UMLS | C5679840 | 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 (2):
- ORPHA:262749Partial duplication of the short arm of chromosome 7 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:813Silver-Russell syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders; rare neoplastic diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
29 annotations · validated 2020-11-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000592 | Blue sclerae | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0002007 | Frontal bossing | |
| HP:0000307 | Pointed chin | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0004482 | Relative macrocephaly | |
| HP:0000331 | Short chin | |
| HP:0004322 | Short stature | |
| HP:0001518 | Small for gestational age | |
| HP:0000219 | Thin upper lip vermilion | |
| Occasional (29-5%) | ||
| HP:0000324 | Facial asymmetry | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0002213 | Fine hair | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0009890 | High anterior hairline | |
| HP:0000975 | Hyperhidrosis | |
| HP:0001943 | Hypoglycemia | |
| HP:0006889 | Intellectual disability, borderline | |
| HP:0000066 | Labial hypoplasia | |
| HP:0000527 | Long eyelashes | |
| HP:0011342 | Mild global developmental delay | |
| HP:0001786 | Narrow foot | |
| HP:0000460 | Narrow nose | |
| HP:0001212 | Prominent fingertip pads | |
| HP:0000322 | Short philtrum | |
| HP:0000325 | Triangular face | |
| HP:0000582 | Upslanted palpebral fissure | |
Annotation source: 10987657[PMID]_10631135[PMID]_28764823[PMID]_27585961[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/231137
- This record as JSON: /data/d/231137.json