Acrodysostosis Overview

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Learn About Acrodysostosis

What is the definition of Acrodysostosis?
Acrodysostosis refers to a group of genetic disorders of bone growth. Common signs and symptoms include very short fingers and toes, underdeveloped facial bones, a small nose, and short stature. Many individuals with Acrodysostosis have developmental delays and intellectual disability. Individuals with Acrodysostosis additionally may have hormone resistance, which means that the body does not respond to the certain hormones. The disease may be caused by genetic changes (pathogenic variants) in one of two genes, PRKAR1A or PDE4D. The disease is inherited in an autosomal dominant manner, with most reported cases occurring for the first time in a family due to a new genetic change.
What are the alternative names for Acrodysostosis?
  • Acrodysostosis
  • Acrodysplasia
  • Arkless-Graham syndrome
  • Maroteaux-Malamut syndrome
  • Nasal hypoplasia-peripheral dysostosis-intellectual disability syndrome
  • Peripheral dysostosis-nasal hypoplasia-intellectual disability (PNM) syndrome
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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center