COL2A1-related spondyloepiphyseal dysplasia

COL2A1-related spondyloepiphyseal dysplasia is a type of skeletal disorder caused by changes in the COL2A1 gene. This condition affects the development of the spine and the ends of long bones, leading to abnormal bone growth and structure. It includes several forms, such as spondyloepiphyseal dysplasia congenita, spondyloepiphyseal dysplasia with metatarsal shortening, and spondyloepiphyseal dysplasia with metaphyseal changes. These different forms share a common genetic cause but may have variations in how they affect bone development. People with this condition experience differences in bone growth that can influence overall skeletal appearance and function. The understanding of this condition is based on the identification of variants in the COL2A1 gene, which plays a crucial role in cartilage and bone formation.

Information about symptoms is currently limited for this condition.

This condition is caused by a variant in the COL2A1 gene. The change in this gene disrupts the production of type II collagen, a protein that is important for the normal development of cartilage and bone. As a result, the growth and structure of bones, particularly in the spine and long bones, may be affected in people with this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.