Camurati-Engelmann disease (CED; MIM 131300) is an autosomal dominant disorder characterized by a waddling gait, leg pain, easy fatigability and reduced muscle mass. It is a progressive, sclerosing bone dysplasia displaying endosteal and periosteal thickening of the diaphyses of the long bones resulting in cortical thickening and narrowing of the medullary cavity. Additional findings can include exophtalmos, vision and hearing loss, facial paralysis, anemia, leukopenia, hepatosplenomegaly and sclerosis of the skull base. Onset usually occurs in childhood and there is variable penetrance. Patients may be misdiagnosed with muscular dystrophy. Camurati-Engelmann disease is caused by mutations in the transforming growth factor β1 gene (TGFB1). TGFB1 affects osteoblasts and osteoclasts and acts as a coupling factor between bone deposition and resorption.