Hajdu-Cheney syndrome (DOID:2736)
Alliance: disease page
Synonyms: acroosteolysis with osteoporosis and changes in skull and mandible; arthrodentoosteodysplasia; Cheney syndrome; HJCYS; serpentine fibula-polycystic kidney syndrome; SFPKS
Alt IDs: OMIM:102500, DOID:2735, MESH:D030981, MESH:D031845, NCI:C35545, NCI:C84745, UMLS_CUI:C0917715, UMLS_CUI:C0917990
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.