Sacral agenesis

Sacral agenesis is a rare congenital disorder characterized by the underdevelopment or absence of the sacrum, the large triangular bone at the base of the spine.

This condition primarily affects the lower spine and can lead to a range of physical anomalies and complications.

The sacrum plays a critical role in connecting the spine to the pelvis, and its malformation can lead to difficulties in sitting, standing, and walking.

Individuals with sacral agenesis may experience varying degrees of lower limb abnormalities, such as clubfoot or hip dysplasia, and can have bowel or bladder control issues due to the involvement of nerves in this region.

The severity of the condition can vary widely, with some individuals experiencing minimal symptoms while others may face significant physical challenges.

Sacral agenesis can be detected through imaging techniques such as MRI or CT scans, which provide detailed images of the bone structures and can help in assessing the extent of the condition.

Early diagnosis is crucial for managing symptoms and improving the quality of life for affected individuals through physical therapy, surgical interventions, or assistive devices.

The condition is thought to be associated with maternal diabetes, though the exact cause is not well understood.

Genetic counseling may be recommended for families with a history of sacral agenesis to understand the risks and implications for future pregnancies.