Submitted:
27 February 2026
Posted:
04 March 2026
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Abstract
Keywords:
1. Introduction
2. Methods
2.1. LSTV Classification
2.2. Jenkins Classification of LSTV




3. Symptoms Observed in Patients with Bertolotti’s Syndrome
4. Biomechanical Changes Due to Bertolotti’s Syndrome
4.1. Direct Effect of LSTV
- Arthritis of the pseudo-articulation – In LSTV types where the transverse process forms a “false joint” with the sacrum (i.e., type II & type IV), the bone-on-bone contact leads to mechanical grinding, inflammation, and the formation of osteophytes. This can lead to direct localized, aching pain (Poe, 2013).
- Radiculopathy – Radiculopathy (i.e., pain radiating down the leg) can occur through several mechanisms. This can be caused by direct compression of the exiting L5 nerve root due to the enlarged transverse process. Alternatively, the local inflammation caused by osteophyte formation due to pseudo-articulation can lead to irritation of the exiting L5 nerve root. Alternatively, the hypermobility at the L4-L5 level due to LSTV can cause disc herniation at that level (Jancuska et al., 2015).
4.2. Secondary Effects of LSTV
- Myofascial pain – The body’s attempt to stabilize the anomalous anatomy can cause increased strain on the musculature around the LSTV. This can lead to hypertonicity in the Quadratus Lumborum (QL) and the Iliopsoas that can cause formation of chronic strain and trigger points in these muscles (Jain et al., 2013).
- Contralateral facet joint stress – The asymmetrical motion caused by unilateral LSTV can place excessive load on the facet joint on the opposite side of the pseudo-articulation. This can lead to facet joint pain and development of arthritis (Jancuska et al., 2015).
- Adjacent segment disease – Compensatory hypermobility of the segment above the LSTV can lead to acceleration of degeneration of the disc. This, in turn, leads to higher incidence of disc herniation, annular tears (i.e., tear of the outer wall of the disc), and spinal stenosis compared to individuals with normal anatomy (Crane et al., 2021).
5. Genetic Basis for Bertolotti’s Syndrome
6. Congenital Conditions Associated with Bertolotti’s Syndrome
- Hypermobility Ehlers-Danlos Syndrome (hEDS) – hEDS is a rare heritable tissue disorder that causes general joint hypermobility. It is the most common type of EDS, accounting for about 90% of cases. Some patients with hEDS have also been shown to have Craniocervical Instability (CCI) and Thoracic Outlet Syndrome. The specific genes that cause hEDS have not been elucidated. As such, there is no laboratory test that can definitively identify patients with hEDS (Gensemer et al., 2021).
- Spina Bifida Occulta - Spina bifida is a rare congenital disorder where there is incomplete neural tube closure during fetal development. Spina bifida occulta is a mild version of this condition where a gap is present between the vertebrae (Imbard et al., 2013).
- Cervical stenosis - Cervical stenosis is caused by the narrowing of the spinal canal in the cervical spine. Cervical stenosis can be congenital or acquired due to degenerative changes after birth (Goodwin & Hsu, 2023).
- Extra L6 vertebra – An L6 vertebra is formed due to the complete lumbarization of the S1 vertebra (Matson et al., 2020). This likely stems from incorrect spine segmentation during development determined by the HOX gene family (Carapuço et al., 2005).
- Thoracic outlet syndrome (TOS) – TOS describes a set of symptoms in the neck and shoulder characterized by numbness, tingling, and pain. This is caused by the compression of the nerves and blood vessels traversing the narrow space between the clavicle and the first rib. Neurogenic TOS, caused by the compression of the C5-T1 brachial plexus nerve roots, accounts for over 90% of TOS cases. Furthermore, patients with a cervical rib (i.e., a transitional anatomy) are predisposed to developing neurogenic TOS (Jones et al., 2019).
7. Diagnosis of Bertolotti’s Syndrome
7.1. Diagnostic Protocol for Bertolotti’s Syndrome

7.1.1. Assess Patient History
7.1.2. Conduct Physical Exam
7.1.3. Diagnostic Imaging

7.1.4. Diagnostic Injection
8. Treatment Options for Bertolotti’s Syndrome
8.1. Step 1 – Conservative Therapy
- Avoiding provocative movements – Counsel patients to avoid or modify activities that require repetitive lumbar flexion, rotation and extension. Furthermore, high impact activities such as jumping exercises should be reduced or avoided.
- Proper lifting mechanics – Instruct patients proper lifting techniques (i.e., bending at the knees and keeping load close to the body) and to avoid excessive loading of the back. Patients should work closely with their physical therapist to determine safe ways to perform activities that induce strain on the lower back.
8.2. Step 2 – Interventional Therapy
8.3. Step 3 – Surgery
Resection vs Fusion
9. Conclusions and Areas for Further Investigation
9.1. What we Know so Far
9.2. Areas for Further Investigation
- Broad adoption of unified LSTV classification system – While the Jenkins classification offers a robust methodology that addresses the diagnostic limitations of the Castellvi classification, it has yet to be widely adopted across the medical field. Establishing a standardized nomenclature specific to Bertolotti’s Syndrome is critical for ensuring effective communication between diverse specialties, including radiology, neurology, and pain management. A unified language is the first step toward systematically documenting patient presentations, which will eventually allow researchers to aggregate data and correlate specific symptom profiles with distinct LSTV classifications.
- Standardization of conservative care protocols - While the principles of targeted physical therapy are broadly understood, there are no specific protocols to address the issues that arise in patients with Bertolotti’s Syndrome. Therefore, development and validation of standardized, evidence-based PT protocols could improve the efficacy of non-operative care, potentially reducing the number of patients who require surgery.
- Clarity on effective surgical techniques – There are limited studies currently available that investigate long-term outcomes of patients that have undergone surgery. There should be more studies aimed at developing a surgical protocol based on large-scale, long-term, evaluation of patient outcomes. Furthermore, there currently exists only one study (Jenkins, Chung, et al., 2023) that attempts to systematize the selection of a surgical approach based on the specific anatomy and symptoms of the patient. Although it is a great start, more studies are required to validate the findings before it can be widely adopted. The target state should be a clear rubric surgeons can utilize to determine the appropriate surgical approach for a patient.
- Establish global patient registry – The establishment of a global patient registry is critical for tracking the natural history of Bertolotti’s Syndrome outside of select surgical populations. Integrating Patient-Reported Outcome Measures (PROMs) into this registry will provide a quantifiable metric for patient burden that imaging alone cannot capture. This data is vital for enhancing diagnostic rigor, as it allows for the correlation of specific LSTV types with functional impairments. Ultimately, a robust dataset of PROMs will reveal the long-term efficacy of various interventions, guiding the development of more effective, patient-centered treatment protocols.
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