11,31,32,34,35 Many of the mutations that have been described in acrodysostosis patients are unique and not shared by other patients; the only recurrent mutation that has been well described is the Arg368*Del mutation in PRKAR1A, which leads to a 14 amino acid truncation of the protein and was the first mutation linked to acrodysostosis.38 The gene discussed is PRKAR1A; the disease is acrodysostosis.