Hajdu-Cheney syndrome
acroosteolysis with osteoporosis and changes in skull and mandible

Hajdu-Cheney syndrome causes short stature and extreme bone flexibility.

Hajdu-Cheney syndrome is inherited in an autosomal dominant pattern.

Fetuses with Hajdu-Cheney syndrome often will not be seen to unclench their hands on obstetrical ultrasound.

NOTCH2 is associated with Alagille syndrome and Hajdu-Cheney syndrome.

"Kidney Abnormalities in Hajdu-Cheney Syndrome," Pediatric Nephrology (Berlin, Germany), March 1997.

Mutations within the last coding exon of Notch2 that remove the PEST domain and escape the nonsense-mediated mRNA decay have been shown to be the main cause of the Hajdu-Cheney syndrome.

Hajdu-Cheney syndrome, also called acroosteolysis with osteoporosis and changes in skull and mandible, arthrodentoosteodysplasia and Cheney syndrome, is an extremely rare autosomal dominant congenital disorder of the connective tissue characterized by severe and excessive bone resorption leading to osteoporosis and a wide range of other possible symptoms.

Hajdu-Cheney syndrome, also called acroosteolysis with osteoporosis and changes in skull and mandible, arthrodentoosteodysplasia and Cheney syndrome, is an extremely rare autosomal dominant congenital disorder of the connective tissue characterized by severe and excessive bone resorption leading to osteoporosis and a wide range of other possible symptoms.