Acrodysostosis 1 with or without hormone resistance

Acrodysostosis 1 with or without hormone resistance is a rare skeletal disorder that affects bone growth. It is known as an autosomal dominant condition, meaning it can be passed from one generation to another. People with this condition typically have short stature and unique bone structures in their hands and face. This condition is caused by changes in a specific gene. The effects on bone development and hormone responses can vary, and the condition is characterized by features such as short fingers (brachydactyly) and distinct facial traits. Hormonal resistance, where the body does not respond normally to certain hormones, is also commonly observed.

Common signs of the condition include short stature, brachydactyly (short fingers), and characteristic facial features. In many cases, there is also resistance to multiple hormones, which can affect various body systems.

Acrodysostosis 1 with or without hormone resistance is caused by mutations in the PRKAR1A gene. It is inherited in an autosomal dominant pattern, which means that a change in just one copy of the gene can cause the disorder. This genetic mutation affects the cAMP-dependent protein kinase, impacting bone development and hormone function.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.