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What is Spondyloperipheral Dysplasia?

  • A form of dwarfism (skeletal dysplasia)
  • Affects bone growth
  • Can be caused by a mutation in the COL2A1 gene
  • Incidence not known, only a few affected people worldwide
  • Recorded heights of 108cm to 154 cm adults

Diagnosis of Spondyloperipheral Dysplasia

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

What are the common characteristics of Spondyloperipheral Dysplasia? 

  • Short stature
  • Shortened long bones of arms and legs
  • Flattened bones of the spine (platyspondyly)
  • Shorter fingers and toes - except the big toe (brachydactyl)
  • Curvature of the lower back (lordosis)
  • Feet deformity (club foot)
  • Occasional near sightendness (myopia)
  • Possibly hearing loss
  • Reduced joint mobility

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

Other information about Spondyloperipheral Dysplasia

  • Life expectancy is not affected
  • Intelligence possibly affected
  • Can affect boys and girls equally

Genetics of Spondyloperipheral Dysplasia

  • If there is no history of Spondyloperipheral Dysplasia in the family, Spondyloperipheral Dysplasia is thought to be passed on by one parent (dominant) as the result of a mutation

Dwarfism Genetics Spondyloperipheral Dysplasia mutation dominant

Additional reading about Spondyloperipheral Dysplasia

 

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