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Hajdu-Cheney syndrome
Summary
- Synonym
-
- Cheney syndrome
- HJCYS
- SFPKS
- acroosteolysis with osteoporosis and changes in skull and mandible
- arthrodentoosteodysplasia
- serpentine fibula-polycystic kidney syndrome
- 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.
- Super Class
- autosomal dominant disease bone disease
