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What is Achondrogenesis 1a?

  • Disorder affecting cartilage and bone development 
  • Caused by mutations in the TRIP11 gene. 
  • Incidence is unknown
  • Also called Houston-Harris type

Diagnosis of Achondrogenesis 1a

  • Ultrasound 
  • Radiographic findings
  • Fatality 
  • Physical characteristics 
  • Molecular genetic testing

What are the characteristics of Achondrogenesis 1a?

  • Extremely short limbs 
  • Narrow chest
  • Short ribs 
  • Easily fractured 
  • Lack of ‘normal’ ossification 
  • Fluid accumulation in the body
  • Facial characteristics 

Other information about Achondrogenesis 1a

  • Life expectancy is highly affected 
  • Least well understood of the 3 types
  • Distinguished by type 1b with genetic testing
  • Affects males and females equally

Genetics of Achondrogenesis 1a

  • Passed on by a gene from both parents (recessive) 

Dwarfism Genetics Achondrogenesis 1a mutation recessive

Additional reading about Achondrogenesis 1a

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