Results 41 -
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Abnormal form of the vertebral bodies
- ... deficiencies, genetic form Combined pituitary hormone deficiencies, genetic forms Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome Pituitary hormone deficiency, combined 1 Short ...
- ... As affected children grow, they often develop an abnormal, gradually worsening side-to-side curvature of the spine (scoliosis) and inward curvature of the back (lordosis). ...
- ... down other proteins. As a result, excess and abnormal proteins build up in muscle, bone, and brain cells. The proteins form clumps that interfere with the normal functions of ...
- ... deformities that restrict movement (contractures) or develop an abnormal side-to-side or back-to-front curvature of the spine (scoliosis or kyphosis, often called kyphoscoliosis when they ...
- ... risk of ankylosing spondylitis. This condition is a form of painful, ongoing joint inflammation (chronic inflammatory arthritis) that primarily affects the spine. Each of these variations changes a single protein ...
- ... of the discs between the bones of the spine (vertebrae).To construct type II collagen, three alpha-1(II) chains twist together to form a procollagen molecule. Procollagen molecules are then processed ...
- ... and legs. Most affected individuals also develop an abnormal side-to-side and back-to-front curvature of the spine (scoliosis and kyphosis, often called kyphoscoliosis when they ...
- ... size (microcephaly), side-to-side curvature of the spine (scoliosis), and tapered fingers.CDKL5 deficiency disorder was previously classified as an atypical form of Rett syndrome. These conditions have common features, ...
- ... fibroblast containing protein strands called myofibrils. Myofibrils normally form the basic unit of muscle fibers, allowing them to contract. The increased number of myofibroblasts in this disorder cause abnormal contraction of the fascia and produce excess amounts ...
- ... 1 or lead to the production of an abnormal version of the receptor. An altered or missing patched-1 receptor cannot effectively suppress cell growth and division. As a result, cells proliferate uncontrollably to form the tumors that are characteristic of Gorlin syndrome. ...