In one such example, dysregulation of Smad4, a common intracellular effector of all transforming growth factor β (TGFβ) family members, is responsible for human Myhre syndrome and characterized by short stature, brachydactyly, and joint stiffness (Caputo et al., 2012; Le Goff et al., 2012; Caputo et al., 2014). The gene discussed is SMAD4; the disease is Myhre syndrome.