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What is Diastrophic Dysplasia? 

  • A form of dwarfism (skeletal dysplasia)
  • Affects bone growth and development
  • Caused by a mutation in the SLCA26A2 gene
  • Thought to occur 1 in every 100,000

Diagnosis of Diastrophic Dysplasia 

  • Before birth by:
    • Ultrasound scanning
    • Testing methods e.g. Chronic villus sampling and DNA linkage studies.
  • After birth by:
    • Observation of common physical characteristics
    • X-rays

What are the common characteristics? 

  • Shortened limbs
  • Ear deformities (cauliflower ear)
  • Hand deformities (hitchhiker thumb, fused finger joints)
  • Feet deformities (ClubFeet - the severity differs)
  • CleftPalate
  • Progressive deformities and contractures of joints (differing severity)
  • Progressive hip dysplasia (differing severity)
  • Progressive curvature of the spine (differing severity)
  • Degeneration of joints (differing severity) 

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

Other information about Diastrophic Dysplasia 

  • Life expectancy is not affected
  • Intelligence is not affected
  • It is thought to be most common in Finland
  • Can affect boys and girls equally

Genetics of Diastrophic Dysplasia

  • Passed on by both parents (recessive)

Dwarfism Genetics Diastrophic Dysplasia mutation recessive

Additional reading about Diastrophic Dysplasia 

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