Camurati-Engelmann Syndrome
MESHD003966
An autosomal dominant form of dysplasia that is characterized by progressive thickening of diaphyseal cortex of long bones. Mutations in the gene that encodes TRANSFORMING GROWTH FACTOR BETA1 are one cause of this disorder.
Synonyms
- Camurati Engelmann Syndrome
- Diaphyseal Dysplasia 1, Progressive
- Engelmann's Disease
- Progressive Diaphyseal Dysplasia
- Diaphyseal Dysplasias, Progressive
- Dysplasia, Progressive Diaphyseal
- Dysplasias, Progressive Diaphyseal
- Camurati-Engelmann Disease
- Camurati Engelmann Disease
- Diaphyseal Dysplasia, Progressive
- Diaphyseal Hyperostosis
- Diaphyseal Hyperostoses
- Hyperostoses, Diaphyseal
- Hyperostosis, Diaphyseal
- Engelmann Disease
Source last updated 2026-05-24T15:27:50.522Z