Silver-Russell syndrome

Arch Dis Child. 2011 Dec;96(12):1156-61. doi: 10.1136/adc.2010.190165. Epub 2011 Feb 24.


Silver-Russell syndrome (SRS) is characterised by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, triangular face, asymmetry and feeding difficulties. As many of these features are non-specific, clinical diagnosis of SRS remains difficult. Hypomethylation of the imprinting control region (ICR) 1 on chromosome 11p15 and maternal uniparental disomy (mUPD) for chromosome 7 are found in up to 60% and around 5-10% of patients with SRS, respectively. Patients with ICR1 hypomethylation are more likely to have classical features of SRS, including asymmetry; patients with mUPD7 are more likely to have learning difficulties, particularly speech problems, although these are usually mild. As features vary widely in severity, clinicians should have a low threshold for genetic investigation of patients with features suggestive of SRS.

Publication types

  • Review

MeSH terms

  • Developmental Disabilities / diagnosis
  • Facies
  • Feeding Behavior
  • Genomic Imprinting
  • Genotype
  • Growth Disorders / diagnosis
  • Humans
  • Infant, Newborn
  • Phenotype
  • Prognosis
  • Silver-Russell Syndrome / diagnosis*
  • Silver-Russell Syndrome / genetics
  • Silver-Russell Syndrome / therapy
  • Uniparental Disomy