Dwarfism Awareness Month - SEDc
Rare Dwarfism Conditions Post #7 - Spondyloepiphyseal Dysplasia Congenita (SEDc) -(aka my condition!! 😊) Spondyloepiphyseal dysplasia congenita (SEDc) is a genetic disability and a form of skeletal dysplasia. “Spondylo” means spine, “epiphyseal” means the ends of the long bones, and “dysplasia” means a difference in growth/development, so spondyloepiphyseal dysplasia (SED) is a condition that affects the growth and development of the spine and long bones. “Congenita” means present at birth. SEDc is the most common form of SED, but there are other forms. The other forms of SED are caused by changes in different genes, so are different than SEDc. Genetic Changes SEDc is caused by changes in a gene COL2A1 , which is located on the long arm of chromosome 12. COL2A1 gives the body instructions for making a protein called type 2 collagen. Type 2 collagen is one of the major building blocks of cartilage and the spinal “discs” between vertebrae, and is also import