What to know about Bertolotti syndrome

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Bertolotti syndrome is a spinal condition that is present from birth.

Studies cited in a 2023 review of research suggest that Bertolotti syndrome affects approximately 4–8% of people. Although, some experts believe it is an underdiagnosed condition and that the true prevalence may be greater.

The spine consists of 33 small bones called vertebrae, which are divided into five regions. The sacrum is a bone at the base of the spine that connects to the pelvis. It helps distribute the weight of the upper body across the pelvis.

Healthcare professionals define Bertolotti syndrome as when the lowest vertebrae of the lumbar spine (L5) fuses partially or fully with the sacrum. This can occur when one or both of the bony pieces at the side of the vertebrae become enlarged.

With Bertolotti syndrome, the sacrum can no longer distribute the weight of the upper body evenly across the pelvis. This, in turn, can lead to a restriction of movement and lower back pain.

The L5 vertebrae may fuse with the sacrum when one or both of the bony pieces at the side of the vertebrae become enlarged.

Bertolotti syndrome can also lead to an increased range of movement in the vertebrae above L5. This can increase the risk of a slipped disc and wear and tear on the cartilage between the vertebrae.

Symptoms of Bertolotti syndrome may include:

• pain and tenderness in the lower back
• stiffness
• decreased range of motion in the lower back
• a pinched nerve in the lower spine
• pain in the groin, hips, and sacrum

However, some people with Bertolotti syndrome may not present any symptoms.

Bertolotti syndrome is a congenital condition, meaning it develops in the womb and is present from birth. It occurs when an atypical vertebra at the bottom of the lumbar spine fuses partially or fully with the sacrum.

Researchers are not yet sure why some people develop Bertolotti syndrome. However, one possible cause may be an underdeveloped iliolumbar ligament.

The iliolumbar ligament is a band of tissue that connects the pelvis to the spine. It supports the spine and helps a person maintain their balance.

Learn about the difference between tendons and ligaments.

To accurately diagnose Bertolotti syndrome, a doctor will examine the lumbar spine and pelvis using radiography, a type of X-ray imaging. This will typically provide them with enough information for a diagnosis, if the condition is present.

A doctor may also decide to carry out further imaging tests, such as a CT scan. This can help them assess the extent of the fusing between the lower vertebrae and the sacrum in finer detail.

An MRI scan can help doctors assess whether other conditions may be occuring as a result of Bertolotti syndrome. These can include wear and tear of the cartilage between the vertebrae.

Together, CT and MRI scans can give doctors a clearer picture of a person’s spine when planning treatment.

To treat Bertolotti syndrome, a doctor may first prescribe medications to help relieve pain. These can include medications such as nonsteroidal anti-inflammatory drugs (NSAIDs).

A healthcare professional may also recommend physical therapy and suggest ways to reduce pain when performing certain activities.

Physical therapy can help improve mobility in the spine and increase core strength.

If NSAIDs and physical therapy are not effective, a doctor may recommend corticosteroid injections. These can provide temporary or permanent relief from pain.

If a person is still experiencing pain, a doctor may recommend surgery. A small study looked at two adolescents with Bertolotti syndrome. It suggests that surgery may be an effective way to relieve pain and increase mobility for people with the condition.

Alternative practices may also help to relieve pain and increase range of motion in people with Bertolotti syndrome. These can include exercises such as Pilates. However, people with the condition should speak with a doctor about how to safely engage in exercise.

Many conditions can lead to persistent lower back pain, including Bertolotti syndrome. As a result, anyone who experiences persistent lower back pain should consider contacting a doctor. They can perform tests to help determine the underlying cause.

Without treatment, Bertolotti syndrome can cause other parts of the spine to bear the weight of the upper body. This can put excess strain on the spine and may lead to a slipped disc or wear and tear of the cartilage between the vertebrae.

With early diagnosis and treatment, a person can learn how to reduce their risk of future complications. For example, a doctor may recommend physical therapy, preventative stretches, and maintaining certain levels of physical activity.

Accurate diagnosis and treatment of Bertolotti syndrome is essential for preventing future complications and reducing chronic pain.

Bertolotti syndrome is a spinal condition that is present from birth. It typically causes pain and reduced mobility in the lower back.

A person with Bertolotti syndrome may have an increased risk of developing other conditions. These can include a slipped disc, pinched nerve, or wear and tear of the cartilage between the vertebrae. Early diagnosis and treatment is essential to preventing future complications.

People with Bertolotti syndrome may experience pain in the lower back, hips, pelvis, and sacrum. However, not everyone with the condition will experience these symptoms.

Treatments for Bertolotti syndrome can include NSAIDs, physical therapy, corticosteroid injections, and surgery.

If a person is experiencing persistent lower back pain, they should consider contacting a doctor. A doctor can perform tests to help determine the underlying cause.