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Abnormal form of the vertebral bodies
- ... mutations may result in the production of an abnormal version of the protein that ... myopathy, and rigid spine syndrome, but it is unclear how they are ...
- ... is necessary for the normal growth of the body's bones and tissues, may ... have some form of critical congenital heart disease. The most common ...
- ... respiratory problems. Almost all children with the classic form develop an abnormal curvature of the spine (scoliosis), which appears during childhood and steadily worsens ...
- ... oxygen throughout the body; white blood cells, which form the body's ... cell. These abnormal cells multiply out of control, increasing from about ...
- ... legs (epiphyses). SLC26A2 gene mutations cause the recessive form of the disorder, which is also characterized by malformations of the hands, feet, and knees; abnormal curvature of the spine (scoliosis); and other birth defects.Mutations that cause ...
- ... and have an arm span that exceeds their body height. Other common features include a long and narrow face, crowded teeth, an abnormal curvature of the spine (scoliosis or kyphosis), stretch marks (striae) not related ...
- ... button (umbilical hernia), heart abnormalities, hearing loss, excessive body hair growth (hirsutism), a narrow upper chest that may have a sunken appearance (pectus excavatum), an abnormal side-to-side curvature of the spine (scoliosis), and inward- and upward-turning feet (clubfeet). ...
- ... of accumulated proteins in the muscle fibers. These abnormal regions can ... spine stiffness, scoliosis, and serious breathing problems. Because they ...
- ... AD-HIES also affects other parts of the body, including the bones and teeth. Many people with AD-HIES have skeletal abnormalities such as an unusually large range of joint movement (hyperextensibility), an abnormal curvature of the spine (scoliosis), reduced bone density (osteopenia), and a tendency ...
- ... require wheelchair assistance. Many affected individuals have an abnormal ... processes. Affected individuals may experience problems with constipation, ...