Acrodysostosis is a rare genetic disease characterized by skeletal malformations, growth delays, short stature and distinctive facial features. A characteristic symptom is unusually small hands and feet with short, stubby fingers and toes.
Some children and young people diagnosed with the disease have varying degrees of intellectual disability. Another characteristic of the disease is a resistance to certain hormones that occur naturally in the body.
Acrodysostosis is believed to be caused by mutations in the PRKAR1A gene (type 1) or the PDE4D gene (type 2), although this is not known for certain. These mutations usually occur sporadically and are not passed down through families.
It is likely that additional forms of acrodysostosis exist.
Please be aware that Acrodysostosis Support and Research does not offer advice. We promote research and share experiences and contacts. Please contact a healthcare professional for medical advice.