Camurati-Engelmann Syndrome
Synonyms
Camurati Engelmann Disease
Camurati Engelmann Syndrome
Camurati-Engelmann Disease
Diaphyseal Dysplasia, Progressive
Diaphyseal Dysplasias, Progressive
Diaphyseal Hyperostosis
Dysplasia, Progressive Diaphyseal
Dysplasias, Progressive Diaphyseal
Engelmann Disease
Engelmann's Disease
Progressive Diaphyseal Dysplasia
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.