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Diseases

Genetic and Rare Diseases Information Center (GARD)

Russell-Silver syndrome


Other Names for this Disease
  • Silver-Russell syndrome
  • Silver-Russell dwarfism
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My boyfriend has Russell-Silver syndrome. We are planing to have a baby. Will our baby inherit this condition from him? 

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What causes Russell-Silver syndrome?

Russell-Silver syndrome (RSS) is a genetic disorder that usually results from the abnormal regulation of certain genes that control growth.[1] Two genetic causes have been found to result in the majority of cases:[2][3]
  • abnormalities at an imprinted region on chromosome 11p15 - for some genes, only the copy inherited from a person's father (paternal copy) or mother (maternal copy) is "turned on," or expressed. These parent-specific differences in gene expression are caused by a phenomenon called genomic imprinting. Abnormalities involving genes that undergo imprinting are responsible for many cases of RSS.
  • maternal disomy of chromosome 7 (written as matUPD7) - this occurs when a child inherits both copies of chromosome 7 from the mother, instead of one copy from the mother and one copy from the father.
Other chromosome abnormalities involving any of several chromosomes have also been described as causing RSS, or RSS-like syndromes.[2] In some people with RSS, the underlying cause remains unknown.[1]
Last updated: 3/3/2016

Is Russell-Silver syndrome inherited?

Most cases of Russell-Silver syndrome (RSS) are sporadic (not inherited), which means they occur in people with no family history of RSS.[1]

Less commonly, Russell-Silver syndrome is inherited. In some families, it appears to be inherited in an autosomal dominant manner.[3] This means that having one "copy" of a genetic change in each cell is enough to cause the disorder. In some cases, an affected person inherits the genetic change from a parent. In other cases, the change occurs for the first time in an affected person. When a person with a genetic change that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the genetic change.

In other families, the condition is inherited in an autosomal recessive manner.[3] This means that to be affected, a person must have a change in both copies of the responsible gene in each cell. Affected people inherit one copy from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:
  • 25% (1 in 4) chance to be affected
  • 50% (1 in 2) chance to be an unaffected carrier like each parent
  • 25% chance to be unaffected and not be a carrier
Last updated: 3/3/2016

If my boyfriend and I have a baby, will it inherit Russell-Silver syndrome from him?

While the risk is probably low[4], we strongly recommend that you discuss your concerns with a genetics professional.
Last updated: 11/30/2011

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 6/5/2014

References
Other Names for this Disease
  • Silver-Russell syndrome
  • Silver-Russell dwarfism
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.