Acrodysostosis

From BugSigDB


Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.
Aliases
  • acrodysostosis
  • Acrodysplasia
  • acrodysplasia
  • Arkless-Graham syndrome
  • Maroteaux-Malamut syndrome
  • nasal hypoplasia-peripheral dysostosis-intellectual disability syndrome
  • peripheral dysostosis-nasal hypoplasia-intellectual disability (PNM) syndrome