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What is Achondrogenesis 1b?

  • Disorder affecting cartilage and bone development 
  • Caused by mutations in the SLC26A2 gene. 
  • Incidence is unknown
  • Also called Parenti-Fraccaro type

Diagnosis of Achondrogenesis 1b

  • Ultrasound
  • Physical characteristics 
  • Fatality 
  • Molecular genetic testing

What are the characteristics of Achondrogenesis 1b?

  • Extremely short limbs 
  • Narrow chest
  • Prominent abdomen
  • Short fingers and toes
  • Possible clubfeet
  • Frequently have umbilical hernia or inguinal hernia

Other information about Achondrogenesis 1b

  • Life expectancy is highly affected 
  • Most sever of all 3 types
  • Distinguished by type 1a with genetic testing
  • Affects males and females equally

Genetics of Achondrogenesis 1b

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

Dwarfism Genetics Achondrogenesis 1b mutation recessive

Additional reading about Achondrogenesis 1b

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