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What is Achondrogenesis II?

  • Disorders affecting cartilage and bone development 
  • Caused by mutations in the COL2AQ gene. 
  • Occurence is around 1 in 40,000-60,000
  • Also called Langer-Saldino type

Diagnosis of Achondrogenesis II 

  • Ultrasound
  • Physical characteristics 
  • Molecular Genetic tests 

What are the characteristics of Achondrogenesis II?

  • Short limbs 
  • Narrow chest
  • Short ribs 
  • Lack of ‘normal’ ossification 
  • Underdeveloped lungs
  • Distinct facial features e.g. prominent forehead, small chin
  • Possible cleft palate
  • Enlarged abdomen

Other information about Achondrogenesis II

  • Life expectancy is highly affected 
  • Affects males and females equally

Genetics of Achondrogenesis II

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

Dwarfism Genetics Achondrogenesis 2 mutation

Additional reading about Achondrogenesis II

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