Spondyloepiphyseal dysplasia congenita (SED)

Spondyloepiphyseal dysplasia congenita (SED) is a rare skeletal disorder that affects the development of the spine and the ends of the bones near the joints.

This disorder results in short stature, curvature of the spine, and abnormal bone growth. SED is caused by mutations in the gene that codes for collagen type XI, a protein involved in the development of bones and other connective tissues.

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