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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Russell-Silver syndrome


Other Names for this Disease

  • Silver-Russell dwarfism
  • Silver-Russell syndrome
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]
  • 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. This is the cause of RSS in about 10-15% of cases.
  • abnormalities at an imprinted region on chromosome 11p15 (up to 50-60% of cases) - 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 these cases of RSS.
Besides matUPD7 and the 11p15 abnormalities, additional chromosomal abnormalities affecting chromosomes 1, 7, 14, 15, 17, and 18 have been described as causing RSS or RSS-like syndromes.[2] In some children who are diagnosed with RSS, the underlying genetic cause is still unknown.[1] Specific reasons for the development of the symptoms of RSS are not fully understood.
Last updated: 2/11/2014

Is Russell-Silver syndrome inherited?

Most cases of Russell-Silver syndrome are sporadic, which means they occur in people with no history of the condition in their family. Less commonly, Russell-Silver syndrome can run in families. In some affected families, the condition appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of a genetic change in each cell is sufficient to cause the disorder. In other families, the condition has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of a gene are altered in each cell. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.[1]
Last updated: 2/11/2014

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

While the risk is probably low[3], 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 dwarfism
  • Silver-Russell syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.