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Start free with EleplanCamurati-Engelmann disease
ORPHA:1328Malformation syndrome
Also called Progressive diaphyseal dysplasia
What it is
Camurati-Engelmann 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.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Adolescent, Adult, Childhood
- Inheritance
- Autosomal dominant
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
15- Abnormal diaphysis morphology
- Abnormal humerus morphology
- Abnormality of femur morphology
- Abnormality of the vertebral column
- Abnormal morphology of the radius
- Abnormal morphology of ulna
- Abnormal skull morphology
- Aplasia/Hypoplasia of the radius
- Bone pain
- Cachexia
- Cortical thickening of long bone diaphyses
- Craniofacial osteosclerosis
- Elevated circulating aldolase concentration
- Hyperostosis
- Skeletal dysplasia
Common30–79%
6These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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