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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
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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]
  • 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

References
  1. Russell-Silver syndrome. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition=russellsilversyndrome. Accessed 11/30/2011.
  2. RUSSELL SILVER SYNDROME. NORD. April 10, 2013; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/377/viewAbstract. Accessed 2/11/2014.