Russell Silver syndrome (RSS)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Russell Silver syndrome (RSS). This is an imprinting disorder. Most cases are sporadic. Fully referenced neurology checklist.
Genetics
- This is an imprinting disorder
- Most cases are sporadic
- The transmission is usually autosomal dominant in familial cases
Genetic mutations
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Neurological features
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Facial features
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Skeletal features
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Urogenital features
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Ophthalmological features
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Systemic features
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References
- Abu-Amero S, Monk D, Frost J, Preece M, Stanier P, Moore GE. The genetic aetiology of Silver-Russell syndrome. J Med Genet 2008; 45:193-199.
- Eggermann T. Russell-Silver syndrome. Am J Med Genet C Semin Med Genet 2010; 154C:355-364.
- Eggermann T, Begemann M, Binder G, Spengler S. Silver-Russell syndrome: genetic basis and molecular genetic testing. Orphanet J Rare Dis 2010; 5:19.
- Sheridan MB, Bytyci Telegrafi A, Stinnett V, et al. Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7. Clin Genet 2013; 84:368-372.
- Augustine EF, Blackburn J, Pellegrino JE, Miller R, Mink JW. Myoclonus-dystonia syndrome associated with Russell Silver syndrome. Mov Disord 2013; 28:841-842.
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