Camurati-Engelmann Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant skeletal disorder caused by mutations in the TGFB1 gene. It is characterized by thickening of the bones, particularly the long bones of the extremities. It is associated with muscle weakness and tiredness.

**Synonyms:** - Camurati-Englemann Disease - Progressive Diaphyseal Dysplasia