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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
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Cause

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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

References
  1. Russell-Silver syndrome. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition=russellsilversyndrome.
  2. Netchine I and Salem J. Russell Silver syndrome. National Organization for Rare Disorders. February 20 2013; http://rarediseases.org/rare-diseases/russell-silver-syndrome/.
  3. Saal HM. Russell-Silver Syndrome. GeneReviews. June 2 2011; http://www.ncbi.nlm.nih.gov/books/NBK1324/.


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.