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Camurati-Engelmann disease

Disease definition

Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.

ORPHA:1328

  • Synonym(s):
    • Progressive diaphyseal dysplasia
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: Q78.3
  • OMIM: 131300
  • UMLS: C0011989
  • MeSH: D003966
  • GARD: 1072
  • MedDRA: -

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