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
- Short height
- Short limbs, fingers and toes
- Head which may appear large, compared to body
- Small triangular face
- Distinctive facial features
- Prominent forehead
- Narrow chin
- Small jaw
- Downturned corners of the mouth
- Fifth finger clinodactyly
- 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
Autosomal recessive
Additional reading about Russell-Silver Syndrome
- Genetics Home Reference - Russell-Silver Syndrome
- GeneRevies - NCBI Bookshelf - Russell-Silver Syndrome
- MedlinePlus
- Kids Health
- Understanding Dwarfism
Other organisations supporting Russell-Silver Syndrome
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