Other Names for this Disease
- Silver-Russell syndrome
- Silver-Russell dwarfism
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Russell-Silver syndrome (RSS) is a genetic disorder that usually results from the abnormal regulation of certain genes that control growth. Two genetic causes have been found to result in the majority of cases:
- 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.
Last updated: 3/3/2016
- Russell-Silver syndrome. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition=russellsilversyndrome.
- Netchine I and Salem J. Russell Silver syndrome. National Organization for Rare Disorders. February 20 2013; http://rarediseases.org/rare-diseases/russell-silver-syndrome/.
- Saal HM. Russell-Silver Syndrome. GeneReviews. June 2 2011; http://www.ncbi.nlm.nih.gov/books/NBK1324/.