TGFB1 and Camurati-Engelmann disease: Camurati-Engelmann disease (progressive diaphyseal dysplasia) (MIM131300) results from a gain-of-function mutation in Transforming Growth Factor Beta-1 (TGFB1), resulting in thickened diaphyseal cortices, increased BMD, limb pain, fatigability, muscle weakness and a waddling gait (220).