What's Silver-Russell syndrome?
Silver-Russell syndrome is a growth disorder marked by poor growth before and after birth, body asymmetry, and a typical facial appearance with a triangular face and a relatively large head. It is genetically diverse and, in many cases, involves the imprinted 11p15 region.
| Also indexed as | OMIM:180860, MONDO:0020796 |
|---|---|
| Features mapped | 16 |
| Treatments mapped | 2 |
| Published sources | 11 |
| Last reviewed | 2026-08-04 |
Signs and symptoms
Clinodactyly of the 5th finger
Curving of the little (fifth) finger, called clinodactyly, is among the typical features, alongside body asymmetry where one side grows differently from the other.
Global developmental delay
Motor and speech delay can occur in silver-russell syndrome and is one of the specific issues that may need support.
Small for gestational age
Babies with Silver-Russell syndrome are typically born small for gestational age, meaning birth weight and length are well below average for the time in pregnancy.
Intrauterine growth retardation
Growth is restricted both before birth (in the womb) and afterward, so birth size is small and growth stays slow. This is a defining feature of the condition.
Autosomal dominant inheritance
Rarer causes of silver-russell syndrome include changes in single genes, both imprinted (CDKN1C and IGF2) and non-imprinted (PLAG1 and HMGA2).
Sporadic
Silver-Russell syndrome usually happens on its own, with no family history. Only about 60% of cases can be confirmed by genetic testing; most arise sporadically rather than being inherited from a parent.
Decreased response to growth hormone stimulation test
Treating silver-russell syndrome with growth hormone can improve body composition, motor development and appetite, reduce the risk of low blood sugar, and increase height.
Fasting hypoglycemia
Hypoglycaemia (low blood sugar) is one of the specific issues that can occur in silver-russell syndrome.
Micrognathia
A small lower jaw (micrognathia) is part of the characteristic facial appearance of Silver-Russell syndrome.
Triangular face
A triangular-shaped face, with a broader forehead and a narrower chin, together with a relatively large head, is a characteristic facial appearance.
Frontal bossing
A prominent or protruding forehead is one of the recognizable facial features of Silver-Russell syndrome.
Craniofacial disproportion
The face often looks small and triangular relative to the skull, giving the disproportionate craniofacial appearance typical of Silver-Russell syndrome.
Delayed skeletal maturation
Possible features of silver-russell syndrome include premature adrenarche, fairly early and rapid central puberty, and insulin resistance.
Body asymmetry
Asymmetry of the body, where one side or limb grows differently from the other, is a core diagnostic feature of Silver-Russell syndrome.
Feeding difficulties
Feeding difficulties are common in Silver-Russell syndrome, especially in infancy and early childhood. Poor appetite, low body weight, and trouble taking in enough calories are part of the condition and are one of the features used in its clinical diagnosis.
Relative macrocephaly
Children with Silver-Russell syndrome often have relative macrocephaly, meaning the head is normal or near-normal in size but appears large in proportion to the rest of the body because overall growth is restricted. It is one of the features used in the clinical diagnosis.
How it is diagnosed
Silver-Russell syndrome 1
Diagnosed using: Netchine-Harbison Clinical Scoring System.
“Silver-Russell syndrome (SRS) is a clinical diagnosis requiring the fulfillment of ≥ 4/6 Netchine-Harbison Clinical Scoring System (NH-CSS) criteria.”
Silver-Russell syndrome 1
Diagnosed using: molecular (epi)genetic testing.
“SRS is primarily a clinical diagnosis; however, molecular testing enables confirmation of the clinical diagnosis and defines the subtype.”
Treatment and management
What the research describes, not a recommendation. Treatment decisions belong with your clinician.
This covers treatments that appear in the published research mapped here. Investigational and experimental therapies are not included, so their absence is a boundary of this map, not a sign they do not exist.
growth hormone therapy
Recombinant human growth hormone is a mainstay of management and is often started soon after diagnosis to support growth. Whether and when to use it is decided with the care team.
Used to help with: Silver-Russell syndrome 1.
“Recombinant human growth hormone treatment is often initiated shortly after the diagnosis.”
growth hormone
In silver-russell syndrome, growth hormone treatment can improve body composition, motor development and appetite, reduce the risk of low blood sugar, and increase height.
Used to help with: Silver-Russell syndrome 1.
“The benefits of treating patients with SRS with growth hormone include improved body composition, motor development and appetite, reduced risk of hypoglycaemia and increased height.”
What changes how it shows up
Carrying the genetic change is not the whole story. The factors below are described in the research mapped here as changing whether, or how strongly, the condition appears. They modulate how the genotype is expressed; they do not, on their own, cause or cure it.
11p15 LOM versus upd(7)mat molecular subtype
Most cases of Silver-Russell syndrome trace to one of two molecular changes: loss of methylation on chromosome 11p15 (11p15 LOM) or maternal uniparental disomy of chromosome 7 (upd(7)mat), where both copies of chromosome 7 come from the mother. Which change is present can influence the features and severity. This is the molecular mirror of Beckwith-Wiedemann syndrome, which involves the opposite changes at the same 11p15 region.
Described as modulating: Silver-Russell syndrome 1.
“The most common etiologies of SRS remain loss of methylation of chromosome 11p15 (11p15LOM) and maternal uniparental disomy of chromosome 7 (upd(7)mat).”
How to read the evidence labels
Where this comes from
This guide is built from 11 published source(s). Every claim above links back to one of them. Click any source ID to read the original on PubMed.
Take it further
Printed, source-linked documents built from this condition's graph — ready to bring to an appointment or attach to a coverage request. Every claim carries its published source, the same as this guide.