Sacral agenesis / Caudal regression syndrome synonyms

Sacral agenesis, also known as caudal regression syndrome, 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, which is the triangular bone at the base of the spine, as well as abnormalities in the lower limbs.

This condition can vary in severity, with some individuals experiencing mild symptoms while others may have more significant impairments. The exact cause of sacral agenesis is unknown, but it is believed to result from a combination of genetic and environmental factors.

Individuals with sacral agenesis may exhibit a range of symptoms, including:

• Malformation of the lower spine: The sacrum may be partially or completely absent, leading to an abnormal curvature of the spine.


• Lower limb abnormalities: These can include shortened or missing leg bones, clubfoot, or hip dislocation.


• Urinary and bowel dysfunction: Some individuals may experience difficulty with bladder and bowel control.


• Neurological complications: In severe cases, there may be associated neurological problems, such as paralysis or weakness in the lower limbs.

Diagnosis of sacral agenesis is typically made through a combination of physical examination, imaging tests (such as X-rays or MRI), and genetic testing. Treatment options depend on the severity of the condition and the specific symptoms present. It may involve a multidisciplinary approach, including orthopedic interventions, physical therapy, assistive devices, and management of associated complications.

While sacral agenesis is a lifelong condition, early intervention and ongoing medical care can help individuals manage their symptoms and improve their quality of life. It is important for individuals with sacral agenesis to work closely with a healthcare team to address their specific needs and develop a comprehensive treatment plan.