What is Acrodysostosis Type II?
- Disorders affecting bone growth
- Caused by mutation on PDE4D gene
- Incidence is unknown
Diagnosis of Acrodysostosis Type II
- Physical characteristics
- Pre-natal scans
- X-rays after birth
- Molecular Genetic tests
What are the characteristics of Acrodysostosis Type II?
- 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 II
- Intelligence may be affected
- Affects males and females equally
Genetics of Acrodysostosis Type II
- 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
Additional reading about Acrodysostosis Type II
