What is Silver-Russell syndrome (SRS)?

Updated: Feb 11, 2019
  • Author: Sunil Kumar Sinha, MD; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Answer

Silver-Russell syndrome (SRS) originally was described by Silver and colleagues in 1953 and, soon afterwards, by Russell in 1954. [1, 2]  Silver-Russell syndrome is characterized by intrauterine and postnatal growth retardation leading to a small-for-gestational-age (SGA) infant at birth, feeding difficulties during infancy, short stature, body asymmetry, characteristic triangular facies with prominent forehead, and several other anomalies.

Over the past several years, more than 400 patients have been described, with phenotypes ranging from mild to classic. Most patients are found to have hypomethylation in the chromosome 11p15 imprinting center 1 (IC1); some patients have maternal uniparental disomy of chromosome 7, with the possibility of imprinting (eg, inheriting two copies of maternal chromosome 7, with no paternal contribution). [3, 4, 5, 6]


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