Hajdu-Cheney syndrome (acroosteolysis, dominant type)
Autoszomális domináns
Progressive loss of the bones at the tips of the fingers and toes, osteoporosis, skull changes and sometimes kidney cysts, caused by truncating NOTCH2 variants.
Vizsgált gének
Más néven
acrodentoosteodysplasia; acroosteolysis with osteoporosis and changes in skull and mandible; Arthrodentoosteodysplasia; Cheney syndrome; Hajdu Cheney Syndrome; Hajdu-Cheney syndrome-NOTCH2; HJCYS; serpentine fibula polycystic kidney syndrome
