Hajdu-Cheney syndrome

Term ID

DOID:2736

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. (3)

References

• GARD:508
• MESH:D030981
• MESH:D031845
• MIM:102500
• NCI:C35545
• NCI:C84745
• SNOMEDCT_US_2023_03_01:63122002
• UMLS_CUI:C0917715
• UMLS_CUI:C0917990

Ontology

Human Disease   ( DOID:2736 )