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Camurati-Engelmann Syndrome MeSH Descriptor Data 2025
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.
Entry Term(s)
Camurati-Engelmann Disease
Diaphyseal Dysplasia 1, Progressive
Diaphyseal Dysplasia, Progressive
Diaphyseal Hyperostosis
Engelmann Disease
Engelmann's Disease
Progressive Diaphyseal Dysplasia
Public MeSH Note
2007; see OSTEOCHONDRODYSPLASIAS 1985-1990, see BONE DISEASES, DEVELOPMENTAL 1975-1984
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.