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Abnormal form of the vertebral bodies
- ... inflammation (chronic inflammatory arthritis) that primarily affects the ... or the presence of abnormal forms of the protein on the cell surface. It ...
- ... a condition that affects many areas of the body. The three forms of ... bone development (dysostosis multiplex) and distinctive facial features ...
- ... common type of neural tube defect. When the spine forms in people with this condition, the bones of the spinal column do not close completely around the developing nerves of the ... in the spine, leading to permanent nerve damage.As described above, ...
- ... side to side. Affected children eventually develop an abnormal curvature of the spine (scoliosis). In some people with RSMD, muscles in ... SEPN1-related) myopathy, which also includes the classic form of ... myopathy with Mallory body-like inclusions, and a small subset of cases ...
- ... be milder than, those of the autosomal recessive form. Abnormalities of the spine and ribs are rarely seen in the autosomal dominant form, and short stature is less pronounced. A variant ...
- ... As a result, tumors such as neurofibromas can form along nerves throughout the body. It is unclear how mutations in the NF1 ...
- ... in early childhood. Affected individuals also have an abnormal curvature of the spine (scoliosis), an unusually large head (macrocephaly), intellectual disability, ...
- ... and some types of the condition also cause abnormal scarring. People with the classical form of Ehlers-Danlos syndrome experience wounds that split ... different types of collagen. These pieces assemble to form mature collagen ... the body. Other genes, including ADAMTS2, FKBP14, PLOD1, and TNXB, ...
- ... or absent corpus callosum, weak muscle tone (hypotonia), abnormal curvature of the spine (scoliosis), and minor facial abnormalities. Some individuals with ...
- ... rays. Other skeletal abnormalities associated with fibrochondrogenesis include abnormal curvature of the spine and underdeveloped hip (pelvic) bones.People with fibrochondrogenesis ...