What are the diagnostic criteria for 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

Diagnostic criteria are not strictly established and were only recently proposed by a group whose homogeneous patients with Silver-Russell syndrome (SRS) generally had at least four of the following features:

  • Birthweight less than or equal to -2 standard deviations (SD) from the mean

  • Poor postnatal growth, less than or equal to -2 SD from the mean at diagnosis

  • Preservation of occipitofrontal circumference

  • Classic facial phenotype

  • Asymmetry

  • Feeding difficulties during infancy

  • Tendency for fasting hypoglycemia during infancy and early childhood

  • Tendency for increased sweating during infancy, particularly on the head and upper trunk

  • Developmental delay

  • Poor head control during infancy caused by relatively large size of head compared to a small body

  • Motor impairment caused by lack of muscle bulk and strength

  • Impairment of cognitive abilities (language, arithmetic) during childhood in about 50% of patients


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