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.
Also Known As:
Camurati-Engelmann Disease; Engelmann Disease; Camurati Engelmann Disease; Camurati Engelmann Syndrome; Diaphyseal Dysplasias, Progressive; Dysplasia, Progressive Diaphyseal; Dysplasias, Progressive Diaphyseal; Diaphyseal Dysplasia, Progressive; Engelmann's Disease