What is Sacral agenesis / Caudal regression syndrome

Sacral agenesis, also known as Caudal Regression Syndrome (CRS), is a rare congenital disorder that affects the development of the lower spine and spinal cord. It is characterized by the incomplete or absent formation of the sacrum, the triangular bone at the base of the spine, and the associated nerves.

CRS can vary in severity and can affect different parts of the body. The condition may lead to abnormalities in the lower limbs, such as shortened or missing bones, muscle weakness, and impaired sensation. Additionally, individuals with CRS may experience bowel and bladder dysfunction, as well as spinal abnormalities.

The exact cause of sacral agenesis/CRS is not fully understood. However, it is believed to result from a combination of genetic and environmental factors. Maternal diabetes, certain medications, and exposure to toxins during pregnancy have been suggested as potential risk factors.

Diagnosis of sacral agenesis/CRS is typically made through physical examination, imaging tests, and genetic testing. Treatment options for this condition are primarily focused on managing the symptoms and may include physical therapy, assistive devices, and surgery to correct skeletal abnormalities or improve function.

Living with sacral agenesis/CRS can present challenges, but with appropriate medical care, support, and accommodations, individuals with this condition can lead fulfilling lives.