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:
Progressive Diaphyseal Dysplasia; Camurati-Engelmann Disease; Engelmann Disease; Diaphyseal Dysplasia 1, Progressive; Diaphyseal Hyperostosis; Camurati Engelmann Disease; Camurati Engelmann Syndrome; Diaphyseal Dysplasias, Progressive; Diaphyseal Hyperostoses; Dysplasia, Progressive Diaphyseal; Dysplasias, Progressive Diaphyseal; Hyperostoses, Diaphyseal; Hyperostosis, Diaphyseal; Diaphyseal Dysplasia, Progressive; Engelmann's Disease