Till date about 18 cases of Spondylocostal dysostosis have been reported in literature.

Spondylocostal dysostosis is a rare, heritable axial skeleton growth disorder. It is characterized by widespread and sometimes severe malformations of the vertebral column and ribs, shortened thorax, and moderate to severe scoliosis and kyphosis. Individuals with Jarcho-Levin typically appear to have a short trunk and neck, with arms appearing relatively long in comparison, and a slightly protuberant abdomen. Severely affected individuals may have life-threatening pulmonary complications due to deformities of the thorax. The syndrome was first described by Saul Jarcho and Paul M. Levin at Johns Hopkins University in 1938.

Axial osteomalacia is a rare osteosclerotic disorder characterized by axial skeleton pain, coarsening of the trabecular bone pattern on radiographs of the axial but not appendicular skeleton.

As of 2017, approximately 800 cases of FOP have been confirmed worldwide making FOP one of the rarest diseases known. The estimated incidence of FOP is 0.5 cases per million people and affects all races.

The prognosis of this developmental disorder is highly based on the underlying disorder. Cerebellar hypoplasia may be progressive or static in nature. Some cerebellar hypoplasia resulting from congenital brain abnormalities/malformations are not progressive. Progressive cerebellar hypoplasia is known for having poor prognosis, but in cases where this disorder is static, prognosis is better.

The only effective line of treatment for malignant infantile osteopetrosis is hematopoietic stem cell transplantation. It has been shown to provide long-term disease-free periods for a significant percentage of those treated; can impact both hematologic and skeletal abnormalities; and has been used successfully to reverse the associated skeletal abnormalities.

Radiographs of at least one case with malignant infantile osteopetrosis have demonstrated bone remodeling and recanalization of medullar canals following hematopoietic stem cell transplantation. This favorable radiographic response could be expected within one year following the procedure - nevertheless, primary graft failure can prove fatal.

Bone mineral density decreases with increasing age. Osteoporotic bone loss can be prevented through an adequate intake of vitamin C and vitamin D, coupled with exercise and by being a non-smoker. A study by Cheng et al. in 1997, showed that greater bone density indicated less risk for fractures in the calcaneus.

There are several conditions and syndromes that can affect the cervical spine and they all vary due to the difference in place and type of injury.

- Rheumatoid arthritis Those infected with rheumatoid arthritis in their cervical spine are known to have neurological deficits. It results in occipital pain and myelopathy.

- Occipito-cervical junction This disorder may result from rheumatoid arthritis, causing the hyper-mobility of the connection between the neck and head, resulting in paralysis or pain.

- Cerebrovascular disease Cerebrovascular disease is a type of cervical spine disorder that can cause tetraplegia.

- Subaxial cervical spine

- Atlanto-axial joint

Three main support groups of this syndrome are the ASGA in Australia, The Association for Children with Genetic Disorders in Poland, and the Association of People of Genetic Disorders in Greece.

Malignant infantile osteopetrosis, also known as infantile autosomal recessive osteopetrosis or simply infantile osteopetrosis is a rare osteosclerosing type of skeletal dysplasia that typically presents in infancy and is characterized by a unique radiographic appearance of generalized hyperostosis - excessive growth of bone.

The generalized increase in bone density has a special predilection to involve the medullary portion with relative sparing of the cortices. Obliteration of bone marrow spaces and subsequent depression of the cellular function can result in serious hematologic complications. Optic atrophy and cranial nerve damage secondary to bony expansion can result in marked morbidity. The prognosis is extremely poor in untreated cases. Plain radiography provides the key information to the diagnosis. Clinical and radiologic correlations are also fundamental to the diagnostic process, with additional gene testing being confirmatory.

Jefferson fracture is often caused by an impact or load on the back of the head, and are frequently associated with diving into shallow water, impact against the roof of a vehicle and falls, and in children may occur due to falls from playground equipment. Less frequently, strong rotation of the head may also result in Jefferson fractures.

Jefferson fractures are extremely rare in children, but recovery is usually complete without surgery.

There is not a specific theory behind the etiology of the unicameral bone cyst, however, according to many researchers and doctors, there is a commonly known theory hypothesized by Jonathan Cohen in 1970. Cohen studied interstitial fluid in six children undergoing treatment for unicameral bone cysts. He believed that the chemical composition of the fluid found in the bone cyst was similar to the chemical make-up in serum. Cohen theorized that the unicameral bone cyst occurs when interstitial fluids in cancellous bones quickly accumulate in one region from blockage.

One of the other theories is that the cysts result from a disorder of the growth plate. Another is that the cysts result from problems with circulation that are caused by a developmental anomaly in the veins of the affected bone. The role trauma plays in the development of these cysts is unknown. Some speculate that repeated trauma puts the bone at risk for developing a bone cyst. This, however, has not been proven.

Fibrodysplasia ossificans progressiva (FOP) is an extremely rare connective tissue disease. The disease is caused by a mutation of the body's repair mechanism, which causes fibrous tissue (including muscle, tendon, and ligament) to be ossified spontaneously or when damaged. In many cases, injuries can cause joints to become permanently frozen in place. Surgical removal of the extra bone growths has been shown to cause the body to "repair" the affected area with even more bone.

Several gene mutations have been identified in patients with camptocormia. These include the RYR1 gene in axial myopathy, the DMPK gene in myotonic dystrophy, and genes related to dysferlinopathy and Parkinson’s disease. These genes could serve as targets for gene therapy to treat the condition in the years to come.

The etiology of the Galeazzi fracture is thought to be a fall that causes an axial load to be placed on a hyperpronated forearm. However, researchers have been unable to reproduce the mechanism of injury in a laboratory setting.

After the injury, the fracture is subject to deforming forces including those of the brachioradialis, pronator quadratus, and thumb extensors, as well as the weight of the hand. The deforming muscular and soft-tissue injuries that are associated with this fracture cannot be controlled with plaster immobilization.

A multitude of neurological disorders cause BSS, including motor neuron disease, CNS disorders, and early amyotrophic lateral sclerosis. Usually, the bent spine is caused by dysfunctioning extensor spinal muscles with a neurological cause.

Neurological origin BSS may also result from damage to the basal ganglia nuclei that are a part of the cerebral cortex, which play a major role in bodily positioning. Damage to this part of the brain can inhibit proper flexion and extension in the muscles necessary for maintaining an upright position. Additionally, the neurotransmitter dopamine plays a key role in the operation of basal ganglia. An abnormally low dopamine concentration, such as that associated with Parkinson’s disease, causes dysfunction in the basal ganglia and the associated muscle groups, leading to BSS. Studies have estimated the prevalence of BSS in people affected by Parkinson's to be between 3% and 18%.

Calcaneal fractures are often attributed to shearing stress adjoined with compressive forces combined with a rotary direction (Soeur, 1975). These forces are typically linked to injuries in which an individual falls from a height, involvement in an automobile accident, or muscular stress where the resulting forces can lead to the trauma of fracture. Overlooked aspects of what can lead to a calcaneal fracture are the roles of osteoporosis and diabetes.

Unfortunately, the prevention of falls and automobile accidents is limited and applies to unique circumstances that should be avoided. The risk of muscular stress fractures can be reduced through stretching and weight-bearing exercise, such as strength training. In addition, footwear can influence forces that may cause a calcaneal fracture and can prevent them as well. A 2012 study conducted by Salzler showed that the increasing trend toward minimalist footwear or running barefoot can lead to a variety of stress fractures including that of the calcaneus.

A flexion teardrop fracture is a fracture of the anteroinferior aspect of a cervical vertebral body due to flexion of the spine along with vertical axial compression. A teardrop fracture is usually associated with a spinal cord injury, often a result of displacement of the posterior portion of the vertebral body into the spinal canal.

Hand-foot-genital syndrome is inherited in an autosomal dominant manner. The proportion of cases caused by de novo mutations is unknown because of the small number of individuals described. If a parent of the proband is affected, the risk to the siblings is 50%. When the parents are clinically unaffected, the risk to the sibs of a proband appears to be low. Each child of an individual with HFGS has a 50% chance of inheriting the mutation. Prenatal testing may be available through laboratories offering custom prenatal testing for families in which the disease-causing mutation has been identified in an affected family member.

Cervical spine disorders are illnesses that affect the cervical spine, which is made up of the upper first seven vertebrae, encasing and shielding the spinal cord. This fragment of the spine starts from the region above the shoulder blades and ends by supporting and connecting the Skull.

The cervical spine contains many different anatomic compositions, including muscles, bones, ligaments, and joints. All of these structures have nerve endings that can detect painful problems when they occur. Such nerves supply muscular control and sensations to the skull and arms while correspondingly providing our bodies with flexibility and motion. However, if the cervical spine is injured it can cause many minor or traumatic problems, and although these injuries vary specifically they are more commonly known as "cervical spine disorders" as a whole.

Tibial plateau fractures constitute 1% of all fractures. Peak age is 30–40 years old in men and 60-70 in women. Approximately half of the people who sustain a tibial plateau fracture are aged over 50 years old.

Cerebellar hypoplasia is characterized by reduced cerebellar volume even though cerebellar shape is (near) normal. It consists of a heterogeneous group of disorder of cerebellar maldevelopment presenting as early onset non progressive ataxia, hypotonia, and motor learning disability. Various causes has been incriminated like hereditary, metabolic, toxic and viral agents. First reported by Crouzon in 1929. In 1940 an unclaimed body came for dissection in London Hospital and was discovered to have no cerebellum. This unique case was appropriately named "human brain without a cerebellum" and was used every year in the Department of Anatomy at Cambridge University in a neuroscience course for medical students.

Some individuals have preaxial polydactyly in the feet (unilateral in one, bilateral in 13), consisting of a small extra biphalangeal toe, in most cases with an associated rudimentary extra metatarsal, lying in a soft tissue web between the hallux and second toe. In some cases, this was accompanied by hypoplasia of the head of the first metatarsal and absence of both phalanges of the hallux.

Most unicameral bone cysts do not cause any symptoms and are discovered as accidental findings on radiographs or CT scans made for other reasons. Large lesions can cause nearby areas of bone to thin, which may result in a fracture and cause pain.

Polydactyly or polydactylism (), also known as hyperdactyly, is a congenital physical anomaly in humans, dogs, and cats having supernumerary fingers or toes.

Polydactyly is the opposite of oligodactyly (fewer fingers or toes).