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
