There are many causes of TOS. The most frequent cause is trauma, either sudden (as in a clavicle fracture caused by a car accident), or repetitive (as in a legal secretary who works with his/her hands, wrists, and arms at a fast paced desk station with non-ergonomic posture for many years). TOS is also found in certain occupations involving lots of lifting of the arms and repetitive use of the wrists and arms.

One cause of arterial compression is trauma, and a recent case involving fracture of the clavicle has been reported.

The two groups of people most likely to develop TOS are those suffering from neck injuries due to traffic accidents and those who use computers in non-ergonomic postures for extended periods of time. TOS is frequently a repetitive stress injury (RSI) caused by certain types of work environments. Other groups which may develop TOS are athletes who frequently raise their arms above the head (such as swimmers, volleyball players, dancers, badminton players, baseball pitchers, and weightlifters), rock climbers, electricians who work long hours with their hands above their heads, and some musicians.

TOS can be attributed to one or more of the following factors:

- Congenital abnormalities are frequently found in persons with TOS. These include cervical rib, prolonged transverse process, and muscular abnormalities (e.g., in the scalenus anterior muscle, a sickle-shaped scalenus medius) or fibrous connective tissue anomalies.

- Trauma (e.g., whiplash injuries) or repetitive strain is frequently implicated.

- Rarer acquired causes include tumors, hyperostosis, and osteomyelitis

Most people with mild to moderate symptoms do not get worse. While many improve in the short term after surgery this improvement decreases somewhat with time. A number of factors present before surgery are able to predict the outcome after surgery, with people with depression, cardiovascular disease and scoliosis doing in general worse while those with more severe stenosis beforehand and better overall health doing better.

The natural evolution of disc disease and degeneration leads to stiffening of the intervertebral joint. This leads to osteophyte formation—a bony overgrowth about the joint. This process is called spondylosis, and is part of the normal aging of the spine. This has been seen in studies of normal and diseased spines. Degenerative changes begin to occur without symptoms as early as age 25–30 years. It is not uncommon for people to experience at least one severe case of low back pain by the age of 35 years. This can be expected to improve and become less prevalent as the individual develops osteophyte formation around the discs.

In the US workers' compensation system, once the threshold of two major spinal surgeries is reached, the vast majority of workers will never return to any form of gainful employment. Beyond two spinal surgeries, any more are likely to make the patient worse, not better.

Surgery may be useful in those with a herniated disc that is causing significant pain radiating into the leg, significant leg weakness, bladder problems, or loss of bowel control. Discectomy (the partial removal of a disc that is causing leg pain) can provide pain relief sooner than nonsurgical treatments. Discectomy has better outcomes at one year but not at four to ten years. The less invasive microdiscectomy has not been shown to result in a significantly different outcome than regular discectomy with respect to pain. It might however have less risk of infection.

The presence of cauda equina syndrome (in which there is incontinence, weakness and genital numbness) is considered a medical emergency requiring immediate attention and possibly surgical decompression. Regarding the role of surgery for failed medical therapy in people without a significant neurological deficit, a Cochrane review concluded that "limited evidence is now available to support some aspects of surgical practice".

Disc herniation can occur in any disc in the spine, but the two most common forms are lumbar disc herniation and cervical disc herniation. The former is the most common, causing lower back pain (lumbago) and often leg pain as well, in which case it is commonly referred to as sciatica. Lumbar disc herniation occurs 15 times more often than cervical (neck) disc herniation, and it is one of the most common causes of lower back pain. The cervical discs are affected 8% of the time and the upper-to-mid-back (thoracic) discs only 1–2% of the time.

The following locations have no discs and are therefore exempt from the risk of disc herniation: the upper two cervical intervertebral spaces, the sacrum, and the coccyx. Most disc herniations occur when a person is in their thirties or forties when the nucleus pulposus is still a gelatin-like substance. With age the nucleus pulposus changes ("dries out") and the risk of herniation is greatly reduced. After age 50 or 60, osteoarthritic degeneration (spondylosis) or spinal stenosis are more likely causes of low back pain or leg pain.

- 4.8% males and 2.5% females older than 35 experience sciatica during their lifetime.

- Of all individuals, 60% to 80% experience back pain during their lifetime.

- In 14%, pain lasts more than 2 weeks.

- Generally, males have a slightly higher incidence than females.

Many vertebrates, especially reptiles, have cervical ribs as a normal part of their anatomy rather than a pathological condition. Some sauropods had exceptionally long cervical ribs; those of "Mamenchisaurus hochuanensis" were nearly 4 meters long.

In birds, the cervical ribs are small and completely fused to the vertebrae.

In mammals the ventral parts of the transverse processes of the cervical vertebrae are the fused-on cervical ribs.

Recent studies have also found a high percent of cervical ribs in woolly mammoths. It is believed that the decline in mammoth numbers may have forced inbreeding within the species which in turn has increased the number of mammoths being born with cervical ribs. Cervical ribs have been connected with leukaemia in human children, so it has given scientists new evidence to believe that the mammoth's extinction was attributed to the condition.

Cervical spinal stenosis is a bone disease involving the narrowing of the spinal canal at the level of the neck. It is frequently due to chronic degeneration, but may also be congenital. Treatment is frequently surgical.

Cervical spinal stenosis is one of the most common forms of spinal stenosis, along with lumbar spinal stenosis (which occurs at the level of the lower back instead of in the neck). Thoracic spinal stenosis, at the level of the mid-back, is much less common. Cervical spinal stenosis can be far more dangerous by compressing the spinal cord. Cervical canal stenosis may lead to serious symptoms such as major body weakness and paralysis. Such severe spinal stenosis symptoms are virtually absent in lumbar stenosis, however, as the spinal cord terminates at the top end of the adult lumbar spine, with only nerve roots (cauda equina) continuing further down. Cervical spinal stenosis is a condition involving narrowing of the spinal canal at the level of the neck. It is frequently due to chronic degeneration, but may also be congenital or traumatic. Treatment frequently is surgical.

Potential non-surgical treatments include:

- Education about the course of the condition and how to relieve symptoms

- Medicines to relieve pain and inflammation, such as acetaminophen, nonsteroidal anti-inflammatory drugs (NSAIDs)

- Exercise, to maintain or achieve overall good health, aerobic exercise, such as riding a stationary bicycle, which allows for a forward lean, walking, or swimming can relieve symptoms

- Weight loss, to relieve symptoms and slow progression of the stenosis

- Physical therapy, to provide education, instruction, and support for self-care; physical therapy instructs on stretching and strength exercises that may lead to a decrease in pain and other symptoms

Spinal stenosis is an abnormal narrowing of the spinal canal or neural foramen that results in pressure on the spinal cord or nerve roots. Symptoms may include pain, numbness, or weakness in the arms or legs. Symptoms are typically gradual in onset and improve with bending forwards. Severe symptoms may include loss of bladder control, loss of bowel control, or sexual dysfunction.

Causes may include osteoarthritis, rheumatoid arthritis, spinal tumors, trauma, Paget's disease of the bone, scoliosis, spondylolisthesis, and the genetic condition achondroplasia. It can be classified by the part of the spine affected into cervical, thoracic, and lumbar stenosis. Lumbar stenosis is the most common followed by cervical stenosis. Diagnosis is generally based on symptoms and medical imaging.

Treatment may involve medications, bracing, or surgery. Medications may include NSAIDs, acetaminophen, or steroid injections. Stretching and strengthening exercises may also be useful. Limiting certain activities may be recommended. Surgery is typically only done if other treatments are not affected, with the usual procedure being a decompressive laminectomy.

Spinal stenosis occurs in as many as 8% of people. It occurs most commonly in people over the age of 50. Males and females are affected equally commonly. The first modern description of the condition is from 1803 by Antoine Portal. Evidence of the condition, however, dates back to Ancient Egypt.

Any of the factors below may cause the spaces in the spine to narrow.

- Spinal ligaments can thicken ("ligamenta flava")

- Bone spurs develop on the bone and into the spinal canal or foraminal openings

- Intervertebral discs may bulge or herniate into the canal or foraminal openings

- Degenerative disc disease causes narrowing of the spaces

- Facet joints break down

- Compression fractures of the spine, which are common in osteoporosis

- Cysts form on the facet joints causing compression of the spinal sac of nerves (thecal sac)

A cervical rib in humans is an extra rib which arises from the seventh cervical vertebra. Sometimes known as "neck ribs", their presence is a congenital abnormality located above the normal first rib. A cervical rib is estimated to occur in 0.2% (1 in 500 people) to 0.5% of the population. People may have a cervical rib on the right, left or both sides.

Most cases of cervical ribs are not clinically relevant and do not have symptoms; cervical ribs are generally discovered incidentally. However, they vary widely in size and shape, and in rare cases, they may cause problems such as contributing to thoracic outlet syndrome, because of pressure on the nerves that may be caused by the presence of the rib.

A cervical rib represents a persistent ossification of the C7 lateral costal element. During early development, this ossified costal element typically becomes re-absorbed. Failure of this process results in a variably elongated transverse process or complete rib that can be anteriorly fused with the T1 first rib below.

On imaging, cervical ribs can be distinguished because their transverse processes are directed inferolaterally, whereas those of the adjacent thoracic spine are directed anterolaterally.

The occurrence of ectopia cordis is 8 per million births. It is typically classified according to location of the ectopic heart, which includes:

- Cervical

- Thoracic

- Thoracoabdominal

- Abdominal

Thoracic and thoraco-abdominal ectopia cordis constitute the vast majority of known cases.

Basilar invagination can be present at birth. If the condition develops after birth, it is usually the result of injury or diseases. If due to injury, about half the time it is caused by vehicle or bicycle accidents; 25% of the time by falls and 10% of the time by recreational activities such as diving accidents.

It also occurs in patients with bone diseases, such as osteomalacia, rheumatoid arthritis, Paget's disease, Ehlers-Danlos syndrome, Marfan syndrome, and osteogenesis imperfecta.

Thoracic insufficiency syndrome is the inability of the thorax to support normal respiration. It is frequently associated with chest and/or spinal abnormalities. Treatment options are limited, but include supportive pulmonary care and surgical options (thoracoplasty and/or implantation of vertical expandable prosthetic titanium rib (VEPTR) devices).

Spontaneous cases are considered to be caused by intrinsic factors that weaken the arterial wall. Only a very small proportion (1–4%) have a clear underlying connective tissue disorder, such as Ehlers–Danlos syndrome type 4 and more rarely Marfan's syndrome. Ehlers-Danlos syndrome type 4, caused by mutations of the "COL3A" gene, leads to defective production of the collagen, type III, alpha 1 protein and causes skin fragility as well as weakness of the walls of arteries and internal organs. Marfan's syndrome results from mutations in the "FBN1" gene, defective production of the protein fibrillin-1, and a number of physical abnormalities including aneurysm of the aortic root.

There have also been reports in other genetic conditions, such as osteogenesis imperfecta type 1, autosomal dominant polycystic kidney disease and pseudoxanthoma elasticum, α antitrypsin deficiency and hereditary hemochromatosis, but evidence for these associations is weaker. Genetic studies in other connective tissue-related genes have mostly yielded negative results. Other abnormalities to the blood vessels, such as fibromuscular dysplasia, have been reported in a proportion of cases. Atherosclerosis does not appear to increase the risk.

There have been numerous reports of associated risk factors for vertebral artery dissection; many of these reports suffer from methodological weaknesses, such as selection bias. Elevated homocysteine levels, often due to mutations in the "MTHFR" gene, appear to increase the risk of vertebral artery dissection. People with an aneurysm of the aortic root and people with a history of migraine may be predisposed to vertebral artery dissection.

The most common causes of upper back pain are unknown but theorized to originate from muscular irritation, intervertebral discs, spinal facet joints, ribs or soft tissue (e.g. ligament/fascia) problems. Commonly intra-scapular pain is referred from the lower cervical spine. Contributing factors to injury include; lack of strength, poor posture, overuse injuries (such as repetitive motion), or a trauma (such as a car accident or sports injury). Often thoracic pain can be aggravated twisting, side bending and with prolonged bent spinal postures.

A compression fracture of the vertebra can also cause acute and/or chronic pain in the upper back. Trauma may cause a fracture, but in women over age 50 without significant trauma or someone known to have osteoporosis, a spontaneous vertebral compression fracture is possible.

Other, less common causes of thoracic back pain include a spinal disc herniation which often may have radicular pain (wrapping around the ribs associated with numbness and burning pain), spinal tumors and rib fractures may mimic thoracic pain/radicular pain. Other possible sources of referral pain into the thoracic region include visceral organs like: lungs, gallbladder, stomach, liver duodenum, pleura and cardiac.

Middle back pain has long been considered a "red flag" to alert healthcare professionals to the possibility of cancer (metastasis or spread to the spine). This is not a sensitive or specific phenomenon and can therefore not be relied upon in isolation.

Surgery appears to lead to better outcomes if there are ongoing symptoms after three to six months of conservative treatment. Laminectomy is the most effective of the surgical treatments. In those who worsen despite conservative treatments surgery leads to improvement in 60–70% of cases. Another procedure using an interspinous distraction device known as X-STOP was less effective and more expensive when more than one spinal level is repaired. Both surgical procedures are more expensive than medical management.

Injuries to the aorta are usually the result of trauma, such as deceleration and crush injuries. Deceleration injuries almost always occur during high speed impacts, such as those in motor vehicle crashes and falls from a substantial height. Several mechanical processes can occur and are reflected in the injury itself. A more recently proposed mechanism is that the aorta can be compressed between bony structures (such as the manubrium, clavicle, and first rib) and the spine. In the ascending aorta (the portion of the aorta which is almost vertical), one mechanism of injury is torsion (a two-way twisting).

Traumatic vertebral dissection may follow blunt trauma to the neck, such as in a traffic collision, direct blow to the neck, strangulation, or whiplash injury. 1–2% of those with major trauma may have an injury to the carotid or vertebral arteries. In many cases of vertebral dissection, people report recent very mild trauma to the neck or sudden neck movements, e.g. in the context of playing sports. Others report a recent infection, particularly respiratory tract infections associated with coughing. Trauma has been reported to have occurred within a month of dissection in 40% with nearly 90% of this time the trauma being minor. It has been difficult to prove the association of vertebral artery dissection with mild trauma and infections statistically. It is likely that many "spontaneous" cases may in fact have been caused by such relatively minor insults in someone predisposed by other structural problems to the vessels.

Vertebral artery dissection has also been reported in association with some forms of neck manipulation. There is significant controversy about the level of risk of stroke from neck manipulation. It may be that manipulation can cause dissection, or it may be that the dissection is already present in some people who seek manipulative treatment. At this time, conclusive evidence does not exist to support either a strong association between neck manipulation and stroke, or no association.

Thoracic spinal pain was significantly associated with: concurrent musculoskeletal pain; growth and physical; lifestyle and social; backpack; postural; psychological; and environmental factors. Specific risk factors identified in adolescents included age (being older) and poorer mental health.

The prevalence of Klippel–Feil syndrome is unknown due to the fact that there was no study done to determine the true prevalence.

Although the actual occurrence for the KFS syndrome is unknown, it is estimated to occur 1 in 40,000 to 42,000 newborns worldwide. In addition, females seem to be affected slightly more often than males.

Genetic genealogy has identified a specific location of a gene on a chromosome for Klippel-Feil Syndrome. Mutations in the GDF6 and GDF3 genes have also been identified to cause the disease, although some people with Klippel–Feil syndrome do not have identified mutations in the GDF6 or GDF3 genes. In this case, the cause of the condition in these individuals is unknown. GDF6 and GDF3 genes provide the body with instructions for making proteins involved in regulating the growth and maturation of bone and cartilage. These proteins actively regulate cell growth in embryonic and adult tissue. GDF6 specifically is involved in the formation of vertebral bones, among others, and establishing boundaries between bones in skeletal development while GDF3 is involved with bone and cartilage growth. Mutations cause reductions in these functional proteins but, it is unclear exactly how a shortage in these proteins leads to incomplete separation of the vertebrae in people with Klippel–Feil syndrome. However, when the GDF6 gene was knocked out in mice, the result was the fusion of bones. Only by identifying the link between the genetic cause and the phenotypic pathoanatomy of Klippel–Feil syndrome will we be able to rationalize the heterogeneity of the syndrome.

These mutations can be inherited in two ways:

- Autosomal dominant inheritance, where one copy of the altered gene in each cell is sufficient to cause the disorder, is especially associated with C2-C3 fusion.

- Autosomal recessive inheritance, where both copies of a gene contain mutations, is especially associated with C5-C6 fusion.

- Another autosomal dominant form (mapped on locus 8q22.2) known as Klippel–Feil syndrome with laryngeal malformation has been identified. It is also known as Segmentation syndrome 1.

After adolescence, some men and women use bodybuilding as a means to hide their malformation. Some women find that their breasts, if large enough, serve the same purpose. Some plastic surgeons perform breast augmentation to disguise mild to moderate cases in women. Bodybuilding is suggested for people with symmetrical pectus carinatum.

The risk of serious complications from spinal fusion surgery for kyphosis is estimated to be 5%, similar to the risks of surgery for scoliosis. Possible complications include inflammation of the soft tissue or deep inflammatory processes, breathing impairments, bleeding, and nerve injuries. According to the latest evidence, the actual rate of complications may be substantially higher. Even among those who do not suffer from serious complications, 5% of patients require reoperation within five years of the procedure, and in general it is not yet clear what one would expect from spine surgery during the long-term. Taking into account that signs and symptoms of spinal deformity cannot be changed by surgical intervention, surgery remains to be a cosmetic indication. Unfortunately, the cosmetic effects of surgery are not necessarily stable.

Scoliosis affects 2–3% of the United States population, which is equivalent to about 5 to 9 million cases. A scoliosis spinal column's curve of 10° or less affects 1.5% to 3% of individuals. The age of onset is usually between 10 years and 15 years (can occur at a younger age) in children and adolescents, making up to 85% of those diagnosed. This is seen to be due to rapid growth spurts occurring at puberty when spinal development is most relenting to genetic and environmental influences. Because female adolescents undergo growth spurts before postural musculoskeletal maturity, scoliosis is more prevalent among females. Although fewer cases are present today using Cobb angle analysis for diagnosis, scoliosis remains a prevailing condition, appearing in otherwise healthy children. Incidence of idiopathic scoliosis (IS) stops after puberty when skeletal maturity is reached, however, further curvature may proceed during late adulthood due to vertebral osteoporosis and weakened musculature.