Camurati-Engelmann disease
Findings
No curated finding names Camurati-Engelmann disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0007542), read 2026-09-29. CC BY 4.0.
Features
55 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal diaphysis morphologyHPOHP:0000940
- Very frequent (80% to 99% of cases)
- Abnormal femur morphologyHPOHP:0002823
- Very frequent (80% to 99% of cases)
- Abnormal humerus morphologyHPOHP:0031095
- Very frequent (80% to 99% of cases)
- Abnormal morphology of the radiusHPOHP:0002818
- Very frequent (80% to 99% of cases)
- Abnormal morphology of ulnaHPOHP:0040071
- Very frequent (80% to 99% of cases)
- Abnormal skull morphologyHPOHP:0000929
- Very frequent (80% to 99% of cases)
- Abnormality of the vertebral columnHPOHP:0000925
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the radiusHPOHP:0006501
- Very frequent (80% to 99% of cases)
- Bone painHPOHP:0002653
- Very frequent (80% to 99% of cases)
- CachexiaHPOHP:0004326
- Very frequent (80% to 99% of cases)
- Cortical thickening of long bone diaphysesHPOHP:0005791
- Very frequent (80% to 99% of cases)
- Craniofacial osteosclerosisHPOHP:0005464
- Very frequent (80% to 99% of cases)
Show the remaining 43
- Elevated circulating aldolase concentrationHPOHP:0012544
- Very frequent (80% to 99% of cases)
- HyperostosisHPOHP:0100774
- Very frequent (80% to 99% of cases)
- Skeletal dysplasiaHPOHP:0002652
- Very frequent (80% to 99% of cases)
- Abnormal tibia morphologyHPOHP:0002992
- Frequent (30% to 79% of cases)
- Limitation of joint mobilityHPOHP:0001376
- Frequent (30% to 79% of cases)
- Metaphyseal dysplasiaHPOHP:0100255
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TGFB1HGNC:11766
- Definitive · Ambry Genetics · Autosomal dominant · 2024
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
- Narrower terms (2)
Other names
3 names
Resolves to: Camurati-Engelmann disease
- Also called
- Camurati-Engelmann syndromeCamurati-Englemann diseaseprogressive diaphyseal dysplasia