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What is Acrodysostosis Type I?

  • Disorders affecting bone growth 
  • Caused by mutation on PRKAR1A gene
  • Incidence is unknown

Diagnosis of Acrodysostosis Type I

  • Physical characteristics 
  • Pre-natal scans
  • X-rays after birth
  • Molecular Genetic tests 

What are the characteristics of Acrodysostosis Type I?

  • Short stature
  • Short fingers and toes
  • Underdeveloped facial bones giving distinct facial features
  • Spine curvature (scoliosis or kyphosis)
  • Low set ears
  • Possibile obesity
  • Advanced bone age 

Other information about Acrodysostosis Type I

  • Intelligence may be affected
  • May have hormone resistance 
  • Can be difficult to distinguish from thyroid conditions
  • Affects males and females equally

Genetics of Acrodysostosis Type I

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

 Dwarfism Genetics Acrodysostosis mutation DOMINANT

Additional reading about Acrodysostosis Type I

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