Camurati-Engelmann Syndrome

**Definition:** 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.

**Tree numbers:** - C05.116.099.708.180 - C16.320.144

**Synonyms:** - Diaphyseal Dysplasia 1, Progressive - Engelmann's Disease - Progressive Diaphyseal Dysplasia - Camurati-Engelmann Disease - Diaphyseal Dysplasia, Progressive - Diaphyseal Hyperostosis - Engelmann Disease