Camurati-Engelmann disease

Orpha code: 1328OMIM code: 131300

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.

Disease data
Classification

Malformation syndrome

Synonyms
Progressive diaphyseal dysplasia
Dysplazja przynasadowa postępująca
ORPHA code
1328
OMIM code
131300
ICD10 code
Q78.3
ICD11 code
LD24.1Y

No additional description.

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