ORPHA:813
Silver-Russell syndrome
Synonyms: Silver-Russell dwarfism
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare imprinting disorder, characterized by fetal growth restriction with no catch-up associated with feeding anomalies and dysmorphic features.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Silver-Russell syndrome | Silver-Russell dwarfism |
| fr | Syndrome de Silver-Russell | |
| de | Silver-Russell-Syndrom | |
| es | Síndrome de Silver-Russell | Enanismo de Silver-Russell |
| it | Sindrome di Silver-Russell | Nanismo di Silver-Russell |
| nl | Syndroom van Silver-Russell | Dwerggroei, Silver-Russell-type |
| pt | Síndrome Silver-Russell | Nanismo de Silver-Russell |
| pl | Zespół Silvera i Russella | Karłowatość Silvera i Russella |
| cs | Silverův-Russellův syndrom | Silverův-Rusellův nanismus · Silver-Russellův syndrom · Silver-Rusellův nanismus |
| uk | Синдром Сільвера-Рассела | Карликовість Сільвера-Рассела |
| zh | Silver-Russell综合征 | Silver-Russell侏儒症 |
| tr | Silver-Russell sendromu | Silver-Russell cücelik |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 180860 | E | validated | |
| OMIM | 312780 | BTNT | validated | |
| OMIM | 616489 | BTNT | validated | |
| ICD-10 | Q87.1 | NTBT | inclusion | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0008394 | E | validated | |
| MeSH | D056730 | E | validated | |
| UMLS | C0175693 | E | validated | |
| GARD | 4870 | E | validated | |
| MedDRA | 10062282 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (7):
- ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:641343Imprinting disorders
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases - ORPHA:519296Rare disorder with pigmented sclera
rare genetic diseases; rare ophthalmic disorders
Children (6):
- ORPHA:231144Silver-Russell syndrome due to 11p15 microduplication
- ORPHA:231137Silver-Russell syndrome due to 7p11.2p13 microduplication
- ORPHA:397590Silver-Russell syndrome due to a point mutation
- ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15
- ORPHA:231147Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
- ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
4
Genes
0 direct · 9 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| GRB10 | ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 | Candidate gene tested in | Assessed | HGNC:4564 | ENSG00000106070 | 601523 | 7p12.1 | growth factor receptor bound protein 10 | 31100449[PMID] |
| CDKN1C | ORPHA:397590Silver-Russell syndrome due to a point mutation | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:1786 | ENSG00000129757 | 600856 | 11p15.4 | cyclin dependent kinase inhibitor 1C | 24065356[PMID] |
| HMGA2 | ORPHA:397590Silver-Russell syndrome due to a point mutation | Disease-causing germline mutation(s) in | Assessed | HGNC:5009 | ENSG00000149948 | 600698 | 12q14.3 | high mobility group AT-hook 2 | 29655892[PMID] |
| IGF2 | ORPHA:397590Silver-Russell syndrome due to a point mutation | Disease-causing germline mutation(s) in | Assessed | HGNC:5466 | ENSG00000167244 | 147470 | 11p15.5 | insulin like growth factor 2 | 26154720[PMID] |
| PLAG1 | ORPHA:397590Silver-Russell syndrome due to a point mutation | Disease-causing germline mutation(s) in | Assessed | HGNC:9045 | ENSG00000181690 | 603026 | 8q12.1 | PLAG1 zinc finger | 28796236[PMID] |
| H19 | ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15 | Role in the phenotype of | Assessed | HGNC:4713 | ENSG00000130600 | 103280 | 11p15.5 | H19 imprinted maternally expressed transcript | 19675668[PMID] |
| H19 | ORPHA:231144Silver-Russell syndrome due to 11p15 microduplication | Role in the phenotype of | Assessed | HGNC:4713 | ENSG00000130600 | 103280 | 11p15.5 | H19 imprinted maternally expressed transcript | 28592837[PMID] |
| IGF2 | ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15 | Role in the phenotype of | Assessed | HGNC:5466 | ENSG00000167244 | 147470 | 11p15.5 | insulin like growth factor 2 | 33236057[PMID] |
| IGF2 | ORPHA:231144Silver-Russell syndrome due to 11p15 microduplication | Role in the phenotype of | Assessed | HGNC:5466 | ENSG00000167244 | 147470 | 11p15.5 | insulin like growth factor 2 | 20503324[PMID] |
5
Prevalence and incidence
5 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-5 / 10 000 | 15.5 / 100 000 | Europe | Value and class | Validated | [EXPERT]_ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | — | United Kingdom | Class only | Not yet validated | 16128241[PMID] |
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | United Kingdom | Value and class | Validated | 16128241[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.7 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER] |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
53 annotations · validated 2017-07-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000592 | Blue sclerae | |
| HP:0004326 | Cachexia | |
| HP:0011968 | Feeding difficulties | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000369 | Low-set ears | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0011220 | Prominent forehead | |
| HP:0004482 | Relative macrocephaly | |
| HP:0004322 | Short stature | |
| HP:0000325 | Triangular face | |
| Frequent (79-30%) | ||
| HP:0011844 | Abnormal appendicular skeleton morphology | |
| HP:0000032 | Abnormality of male external genitalia | |
| HP:0008364 | Abnormality of the calcaneus | |
| HP:0001620 | Abnormally high-pitched voice | |
| HP:0002829 | Arthralgia | |
| HP:0100555 | Asymmetric growth | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002019 | Constipation | |
| HP:0000028 | Cryptorchidism | |
| HP:0003199 | Decreased muscle mass | |
| HP:0008734 | Decreased testicular size | |
| HP:0000270 | Delayed cranial suture closure | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000678 | Dental crowding | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000855 | Insulin resistance | |
| HP:0100559 | Lower limb asymmetry | |
| HP:0000347 | Micrognathia | |
| HP:0001270 | Motor delay | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0012412 | Premature adrenarche | |
| HP:0001622 | Premature birth | |
| HP:0001988 | Recurrent hypoglycemia | |
| HP:0010782 | Shoulder dimple | |
| HP:0002360 | Sleep abnormality | |
| HP:0000233 | Thin vermilion border | |
| HP:0100560 | Upper limb asymmetry | |
| Occasional (29-5%) | ||
| HP:0001626 | Abnormality of the cardiovascular system | |
| HP:0000079 | Abnormality of the urinary system | |
| HP:0000142 | Abnormality of the vagina | |
| HP:0000729 | Autistic behavior | |
| HP:0000957 | Cafe-au-lait spot | |
| HP:0008935 | Generalized neonatal hypotonia | |
| HP:0000975 | Hyperhidrosis | |
| HP:0000047 | Hypospadias | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0001513 | Obesity | |
| HP:0000826 | Precocious puberty | |
| HP:0001852 | Sandal gap | |
| HP:0002650 | Scoliosis | |
| HP:0005484 | Secondary microcephaly | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 27585961[PMID]_25951829[PMID]_17504900[PMID]_24891339[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/813
- This record as JSON: /data/d/813.json