What is Russell Silver Syndrome

Russell Silver Syndrome (RSS), also known as Silver-Russell syndrome, is a rare genetic condition characterized by slow growth before and after birth, a low birth weight, and distinct physical features. While it is a lifelong condition, our DiseaseMaps community of 263 members shows that with early diagnosis and multidisciplinary care, individuals can manage symptoms effectively and lead fulfilling lives.

What are the primary characteristics of Russell Silver Syndrome?

The hallmark of Russell Silver Syndrome is intrauterine growth restriction (IUGR) followed by persistent short stature. Affected individuals often have a triangular-shaped face, a prominent forehead, and a small jaw (micrognathia). Because growth is significantly delayed, body asymmetry—where one side of the body grows at a different rate than the other—is a common clinical finding in children with Russell Silver Syndrome.

What causes Russell Silver Syndrome?

Russell Silver Syndrome is primarily a disorder of epigenetic regulation rather than a simple mutation of a single gene. It is caused by changes in the expression of specific genes on chromosomes 7 or 11 that control growth. In approximately 50% of cases, it results from hypomethylation of the H19/IGF2 imprinting control region on chromosome 11p15. In another 10% of cases, it is caused by maternal uniparental disomy of chromosome 7.

How common is Russell Silver Syndrome?

The prevalence of Russell Silver Syndrome is estimated to be between 1 in 30,000 and 1 in 100,000 live births. It affects males and females equally and occurs across all ethnic and geographic populations. Because the condition is often under-diagnosed or misdiagnosed as generic failure to thrive, the true incidence may be higher.

Key clinical features and differences

It is important to differentiate Russell Silver Syndrome from other growth disorders. Key management areas often include:

• Feeding difficulties: Many infants experience poor appetite and low muscle tone.


• Hypoglycemia: Low blood sugar is common in early childhood due to low muscle mass and limited fat stores.


• Skeletal management: Monitoring for scoliosis and limb length discrepancy is vital.


• Endocrine support: Growth hormone therapy is frequently utilized to improve height velocity.

Next steps

• Consult a clinical geneticist to confirm a diagnosis through specialized molecular testing.


• Work with a pediatric endocrinologist to monitor growth curves and blood glucose levels.


• Connect with the Russell Silver Syndrome community on DiseaseMaps.org to share experiences with over 260 others.


• Seek a multidisciplinary care team including nutritionists, speech therapists, and orthopedic specialists.

Medical disclaimer: This content is for educational purposes only and does not constitute professional medical advice, diagnosis, or treatment; always seek the advice of a physician with any questions regarding a medical condition.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Silver-Russell syndrome.


• Orphanet: Silver-Russell syndrome (ORPHA:814).


• OMIM (Online Mendelian Inheritance in Man): Silver-Russell syndrome (#180860).


• MAGIC Foundation: Information and support for Russell Silver Syndrome.