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What is Russell-Silver Syndrome

  • A form of dwarfism
  • Characterised by slow growth before and after birth
  • Average height of an adult is 
    • Male 4 feet, 11 inches
    • Female 4 feet 7 inches
  • incidence is estimated to be 1 in 30,000 to 1 in 100,000
  • Genetic causes are complex and focusses on chromosome 7 and 11

Diagnosis of Russell-Silver Syndrome

  • Before birth by: 
    • Ultrasound scanning observing slow growth rate
  • After birth by:
    • Observation of common physical characteristics
    • Bone age testing
    • Chromosome testing (may detect) 

What are common characteristics of Russell-Silver Syndrome

  1. Short height 
  2. Short limbs, fingers and toes
  3. Head which may appear large, compared to body
  4. Small triangular face 
  5. Distinctive facial features 
  6. Prominent forehead
  7. Narrow chin
  8. Small jaw
  9. Downturned corners of the mouth
  10. Fifth finger clinodactyly
  11. May have coffee coloured birthmark

*Please be aware, not all of the characteristics may be present*

Other information about Russell-Silver Syndrome

  • Affects men and women equally
  • Life expectancy is not affected

Genetics of Russell-Silver Syndrome

  • Can occur in an autosomal dominant (passed on by one parent) or autosomal recessive (passed on by both parents) pattern 

Autosomal dominant

Dwarfism Genetics RSS mutation dominant

Autosomal recessive

Dwarfism Genetics RSS mutation recessive

Additional reading about Russell-Silver Syndrome

Other organisations supporting Russell-Silver Syndrome 

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