Some individuals with a TGFB1 mutation do not develop signs or symptoms of the disease or evidence of increased bone density on X-ray examination (i.e., reduced penetrance).ĬED is caused by mutations in TGFB1 which encodes transforming growth factor beta-1 protein. The signs and symptoms of CED can be extremely variable even among affected family members. While the first signs and symptoms can appear at varying ages, most appear during childhood or adolescence. The individual may also present with abnormally long limbs in proportion to the height of their body, a decrease in muscle mass and body fat, visible prominence of the long bones in the legs, and rarely delayed puberty. Additional musculoskeletal features include scoliosis, joint contractures, knock knees, and flat feet. If the bones at the base of the skull are affected, the individual may experience headaches, hearing loss, vision problems, vertigo, tinnitus, and even facial paralysis. The first signs and symptoms of CED are usually limb pain, a waddling gait, muscle weakness, and extreme tiredness.
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