Silver-Russell syndrome
Findings
No curated finding names Silver-Russell syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry.
Definition from the Mondo Disease Ontology (MONDO:0008394), read 2026-09-29. CC BY 4.0.
Features
53 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Blue scleraeHPOHP:0000592
- Very frequent (80% to 99% of cases)
- CachexiaHPOHP:0004326
- Very frequent (80% to 99% of cases)
- Feeding difficultiesHPOHP:0011968
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- Low-set earsHPOHP:0000369
- Very frequent (80% to 99% of cases)
- Postnatal growth retardationHPOHP:0008897
- Very frequent (80% to 99% of cases)
- Prominent foreheadHPOHP:0011220
- Very frequent (80% to 99% of cases)
- Relative macrocephalyHPOHP:0004482
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Triangular faceHPOHP:0000325
- Very frequent (80% to 99% of cases)
- Abnormal appendicular skeleton morphologyHPOHP:0011844
- Frequent (30% to 79% of cases)
- Abnormal male external genitalia morphologyHPOHP:0000032
- Frequent (30% to 79% of cases)
Show the remaining 41
- Abnormality of the calcaneusHPOHP:0008364
- Frequent (30% to 79% of cases)
- Abnormally high-pitched voiceHPOHP:0001620
- Frequent (30% to 79% of cases)
- ArthralgiaHPOHP:0002829
- Frequent (30% to 79% of cases)
- Asymmetric growthHPOHP:0100555
- Frequent (30% to 79% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Frequent (30% to 79% of cases)
- ConstipationHPOHP:0002019
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CDKN1CHGNC:1786
- Limited · Ambry Genetics · Autosomal dominant · 2020
Where it sits
- A kind of
- Narrower terms (11)
- Russell-silver syndrome, X-linked
- Silver-Russell syndrome 1
- silver-russell syndrome 2
- Silver-Russell syndrome 3
- silver-russell syndrome 4
- Silver-Russell syndrome 5
- silver-Russell syndrome due to 11p15 microduplication
- silver-Russell syndrome due to 7p11.2p13 microduplication
- silver-Russell syndrome due to an imprinting defect of 11p15
- silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
- silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Other names
6 names
Resolves to: Silver-Russell syndrome
- Also called
- Russell Silver syndromeRussell-Silver dwarfismRussell-Silver SyndromeSilver Russell syndromeSilver-Russell dwarfismSRS