Congenital conditions associated with Bertolotti’s Syndrome
Several congenital conditions have been observed in patients diagnosed with Bertolotti’s Syndrome. Based on currently available literature, the co-incidence of these congenital conditions and BSy is purely correlative; neither causative links nor commonalities in the genetic changes leading to these conditions has been found.
Hypermobility Ehlers-Danlos Syndrome
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 Craniocervial Instability (CCI) and Thoracic Outlet Syndrome. Depending on the severity of these conditions, additional corrective surgery may be required.
The specific genes that cause hEDS have not been identified. As such, there is no laboratory test that can definitively identify patients with hEDS.
There is a high bar for diagnosis of hEDS. This is outlined in detail on the The Ehlers-Danlos Society website
Spina Bifida Occulta
Spina bifida is a rare congenital disorder where the spine develops abnormally during fetal development.
Spina bifida occulta is a mild version of this condition where a gap is present between the vertebrae of the spine.
This condition can be diagnosed in adults using X-Ray, MRI, or CT imaging.
Further information on this condition can be found in detail on the Cleveland Clinic website.
Extra L6 vertebra
Normally, individuals have 5 lumbar segments (top). In some people, there is an extra lumbar segment (bottom).
Cervical stenosis
Cervical stenosis is caused by the narrowing of the spinal canal in the cervical spine (i.e., the neck area)
Cervical stenosis can be congenital (i.e., present from birth) or acquired (degenerative changes after birth.
This condition can be diagnosed in adults using X-Ray, MRI, or CT imaging.
Further information on this condition can be found in detail on the Cleveland Clinic website.