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What is Pseudoachondroplasia?

  • A form of dwarfism (skeletal dysplasia)
  • Affects bone growth and development
  • Caused by a mutation in the COMP genes
  • Exact incidence unknown thought to occur 1 in every 30,000
  • Average height of adult male is 120 cm and average height of adult female is 116 cm

Diagnosis of Pseudoachondroplasia

  • Before birth by: 
    • Testing methods e.g. DNA analysis 
  • After birth by:
    • Observation of common physical characteristics
    • X-rays

What are the common characteristics of Pseudoachondroplasia? 

  • Shortened Limbs
  • Short stubby fingers
  • Waddling walk
  • Joint pain (with age)
  • Large range of joint movement (hyperextensibility) in hands, knees and ankles
  • Limited range of motion in the elbows, and hips
  • Some people have legs that turn outwards (valgus) or inwards (varus). Occasionally have one leg turning in, the other turning out (windswept)
  • Sometimes have curved spine (scoliosis)
  • ‘Normal’ facial features

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

Other information about Pseudoachondroplasia

  • Life expectancy is not affected
  • Intelligence is not affected
  • Diagnosis may not occur until around 2 years of age, when physical characteristics maybe apparent.
  • Can affect boys and girls equally

Genetics of Pseudoachondroplasia

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

Dwarfism Genetics Pseudo mutation dominant

  • If one parent has Pseudoachondroplasia, there is a 50% chance Pseudoachondroplasia can be passed on to children

Dwarfism Genetics Pseudo 1 parent affected dominant

Additional reading about Pseudoachondroplasia

 

 

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