Term Name:	Hajdu-Cheney syndrome
Synonyms:	acroosteolysis with osteoporosis and changes in skull and mandible, arthrodentoosteodysplasia, Cheney syndrome, HJCYS, serpentine fibula-polycystic kidney syndrome, SFPKS
Definition:	A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in the NOTCH2 gene on chromosome 1p12.
Ontology:	Human Disease [DOID:2736]   ( DOID:2736 )