In contrast to STD, the subtype spondylocostal dysostosis, or SCD features intrinsic rib anomalies, in addition to vertebral anomalies. Intrinsic rib anomalies include defects such as birfurcation, broadening and fusion that are not directly related to the vertebral anomalies (such as in STD, where extensive posterior rib fusion occurs due to segmentation defects and extreme shortening of the thoracic vertebral column). In both subtypes, the pulmonary restriction may result in pulmonary hypertension, and have other potential cardiac implications.

Spondylothoracic dysplasia, or STD, has been repeatedly described as an autosomal recessively inherited condition that results in a characteristic fan-like configuration of the ribs with minimal intrinsic rib anomalies. Infants born with this condition typically died early in life due to recurrent respiratory infections and pneumonia due to their restricted thorax. Recently, a report has documented that actual mortality associated with STD is only about 50%, with many survivors leading healthy, independent lives.

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.

Hematologic manifestations related to bone marrow suppression and subsequent pancytopenia are a major source of morbidity and mortality. Additionally extramedullary hematopoiesis can result in liver and spleen dysfunction. Cranial nerve dysfunction and neurologic complications are usually associated with infantile osteopetrosis. Expansion of the skull bone leads to macrocephaly. Additionally, linear growth retardation that is not apparent at birth, delayed motor milestones and poor dentition can occur.

For unknown reasons, children born with FOP have deformed big toes, possibly missing a joint or simply presenting with a notable lump at the minor joint. The first "flare-up" that leads to the formation of FOP bones usually occurs before the age of 10. The bone growth progresses from the top downward, just as bones grow in fetuses. A child with FOP will typically develop bones starting at the neck, then on the shoulders, arms, chest area and finally on the feet.

Specifically, ossification is typically first seen in the dorsal, axial, cranial and proximal regions of the body. Later the disease progresses in the ventral, appendicular, caudal and distal regions of the body. However, it does not necessarily occur in this order due to injury-caused flare-ups. Often, the tumor-like lumps that characterize the disease appear suddenly. This condition causes loss of mobility to affected joints, including inability to fully open the mouth limiting speech and eating. Extra bone formation around the rib cage restricts the expansion of lungs and diaphragm causing breathing complications.

Since the disease is so rare, the symptoms are often misdiagnosed as cancer or fibrosis. This leads physicians to order biopsies, which can exacerbate the growth of these lumps. However, those born with FOP tend to have malformed toes or thumbs which help distinguish this disorder from other skeletal problems.

The median age of survival is 40 years with proper management. However, delayed diagnosis, trauma and infections can decrease life expectancy.

The generalized increase in bone density of the medullary portion predominates with relative sparing of the cortices. The axial and appendicular skeleton are uniformly involved. Malignant infantile osteopetrosis is known for exhibiting specific plain radiographic abnormalities:

- Loss of differentiation between the medullary and cortical portions of bone is a radiographic hallmark of infantile osteopetrosis

- Characteristic endobone or “bone-within-bone” appearance in the spine, or “sandwich vertebra” appearance, characterized by dense endplate sclerosis with sharp margins

- Characteristic endobone or “bone-within-bone” appearance in the pelvis and long bones of extremities where areas of osteosclerosis intermingle with areas of relatively hypodense bone.

- Failure of remodeling of the distal femoral and proximal humeral metaphyses giving the affected bones a funnel shaped appearance known as (Erlenmeyer flask deformity)

- Alternating radiolucent femoral metaphyseal bands

- Pathologic fractures

Non-progressive early onset ataxia and poor motor learning are the commonest presentation.

Classification systems for malformations of the cerebellum are varied and are constantly being revised as greater understanding of the underlying genetics and embryology of the disorders is uncovered. A classification proposed by Patel S in 2002 divides cerebellar malformations in two broad groups; those with cerebellar hypoplasia and; those with cerebellar dysplasia.

- I. Cerebellar hypoplasia

- A. Focal hypoplasia

- 1. Isolated vermis

- 2. One hemisphere hypoplasia

- B. Generalized hypoplasia

- 1. With enlarged fourth ventricle (“cyst,”), Dandy-Walker continuum

- 2. Normal fourth ventricle (no “cyst”)

- a. With normal pons

- b. With small pons i. Normal foliation

- a) Pontocerebellar hypoplasias of Barth, types I and II

- b) Cerebellar hypoplasias, not otherwise specified

If not treated right away, there are many consequences and pains various cervical spine disorders can cause.

- Neck pains Pains in the neck area tend to be tenacious and persistent and most muscles in the cervical spinal region tighten causing for discomfort.

- Headaches Headaches are further triggered through the stiffness of neck muscles, which pull at their attachment to the skull. These headaches are recurrent in nature and start from the base of the skull and emanate upwards; they can be painful or mild.

- Arm pains Muscular spasms within the arm are further common symptoms in which such spasms are seen right above the collarbones and pressure is placed on the Brachial plexus causing arms to feel heavy and ache.

- Difficulty walking Hardships arise with cervical spinal injuries when issues with walking, balancing, and posture are affected all due to the spinal cord being compressed resulting in Myelopathy.

- Those with extremely severe outcomes may result in:Impairment

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.

It is through upper frontal chest discomfort (also known as cervical angina) and scapular pains which signs of cervical spine disorders are shown. In 1937 a man named Oille was the first to state that these chest pains originated from the cervical nerve root. This new outlook helped shed light on exactly what signs indicated the beginning of these ailments for those suffering from cervical spine disorders. It is now recognized that these patients feel pain, numbness, discomfort, and weakness along with neurological symptoms.

- Numbness Numbness occurs when one develops a “pinched” nerve not allowing for the flow of electrical charges, which may result in the death of the nerve fiber.

- Weakness An individual becomes weak due to the compression of nerves encompassing cervical spine disorders, thus resulting in the inability to move or use arms. Those who suffer from such symptoms should seek medical treatment as soon as possible.

It involves numerous anomalies including:

- Post-axial polydactyly

- Congenital heart defects (most commonly an atrial septal defect producing a common atrium, occurring in 60% of affected individuals)

- Teeth present at birth (natal teeth)

- Fingernail dysplasia

- Short-limbed dwarfism, mesomelic pattern

- Short ribs

- Cleft palate

- Malformation of the wrist bones (fusion of the hamate and capitate bones).

The primary symptom of camptocormia is abnormal forward bending of the torso. This bending becomes worse while walking but does not appear when the affected individual is lying down in a horizontal position. This alleviation of the condition indicates that it is a manifestation of another disease or ailment and is not due to a spine that is actually bent. This is somewhat ironic, since the medically accepted name for the condition is bent spine syndrome.

In an afflicted individual, the abnormal bending consists of an anterior flexion greater than 45 degrees. Because of this bending and the physical limitations caused by the conditions associated with the disease, it is usually impossible for an afflicted person to achieve a fully erect position. In addition, patients suffering from camptocormia often experience low back pain as a result of the condition. BSS often appears in individuals afflicted with Parkinson’s disease, muscular dystrophies, endocrine disorders, inflammatory conditions (myositis), or mitochondrial myopathies. As previously mentioned, the disease is more common in older individuals.

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.

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).

Individuals with Jefferson fractures usually experience pain in the upper neck but no neurological signs. The fracture may also cause damage to the arteries in the neck, resulting in lateral medullary syndrome, Horner's syndrome, ataxia, and the inability to sense pain or temperature.

In rare cases, congenital abnormality may cause the same symptoms as a Jefferson fracture.

When initially identified, camptocormia was classified as a psychogenic disease. Although the condition is sometimes a psychogenic manifestation, camptocormia typically originates from either muscular or neurological diseases. However, due to the wide variety of pathologies resulting in camptocormia, there is no singular cause that is most influential for the condition.

Grisel’s syndrome is a non-traumatic subluxation of the atlanto-axial joint caused by inflammation of the adjacent tissues. This is a rare disease that usually affects children. Progressive throat and neck pain and neck stiffness can be followed by neurologic symptoms such as pain or numbness radiating to arms (radiculopathies). In extreme cases, the condition can lead to quadriplegia and even death from acute respiratory failure. The condition often follows soft tissue inflammation in the neck such as in cases of upper respiratory tract infections, peritonsillar or retropharyngeal abscesses. Post-operative inflammation after certain procedures such as adenoidectomy can also lead to this condition in susceptible individuals such as those with Down's syndrome.

Craniopagus twins are conjoined twins that are fused at the cranium. This condition occurs in about 10–20 babies in every million births in the United States. Among this small group, cephalic conjoining, or craniopagus twinning, represents the rarest of congenital abnormalities, accounting for 2–6% of all conjoined twins. Additionally, conjoined twins are genetically identical and always share the same sex. The union in craniopagus twins may occur on any portion of the Calvary, but does not include either the face or the foramen magnum. The thorax and abdomen are separate and each twin has its own umbilicus and umbilical cord. The union may involve the entire diameter of the head or only a small portion. This suggests that although there are many different kinds of vulnerabilities already known in the scientific community, there are an infinite number of variations that can occur. Most of these variations are based on the rotation of one twin's skull to the other and the different phenotype sub-groups of craniopagus twins are based on all these rotational conformations. Each of these factors (rotation, spot of union) affects the development of the brain, the vascular system within the brain and overall wellness of life both of the twins have outside the womb. Relatively few craniopagus twins survive the perinatal period – approximately 40% of conjoined twins are stillborn and an additional 33% die within the immediate perinatal period, usually from organ abnormalities and failure. However 25% of craniopagus twins survive and can be considered for a surgical separation and several attempts occur yearly worldwide. In the last-half century, many advances in medicine including brain imaging, neuro-anesthesia and neurosurgical techniques have proven that a successful outcome is possible following separation of total craniopagus twins.

Axial spondyloarthritis (also often referred to as axSpA) is a chronic, autoinflammatory disease predominantly affecting the axial skeleton (sacroiliac joints and spine). The most known member of the axial spondyloarthritis disease family is ankylosing spondylitis. Axial spondyloarthritis is an umbrella term that has been introduced in the year 2009 to characterize a diverse disease family that share clinical and genetic features, such as the involvement of the axial skeleton. The expression was introduced in order to unify (1) less severe forms of spondylitis, (2) the early phase of ankylosing spondylitis as well as (3) ankylosing spondylitis itself into one term.

A Jefferson fracture is a bone fracture of the anterior and posterior arches of the C1 vertebra, though it may also appear as a three- or two-part fracture. The fracture may result from an axial load on the back of the head or hyperextension of the neck (e.g. caused by diving), causing a posterior break, and may be accompanied by a break in other parts of the cervical spine.

It is named after the British neurologist and neurosurgeon Sir Geoffrey Jefferson, who reported four cases of the fracture in 1920 in addition to reviewing cases that had been reported previously.

Pathophysiology of this disease consists of relaxation of the transverse ligament of the atlanto-axial joint.

A burst fracture is a type of traumatic spinal injury in which a vertebra breaks from a high-energy axial load (e.g., traffic collisions or falls from a great height or high speed, and some kinds of seizures), with shards of vertebra penetrating surrounding tissues and sometimes the spinal canal. The burst fracture is categorized by the ""severity of the deformity, the severity of" (spinal) "canal compromise, the degree of loss of vertebral body height, and the degree of neurologic deficit."" Burst fractures are considered more severe than compression fractures because long-term neurological damage can follow. The neurologic deficits can reach their full extent immediately, or can progress for a prolonged time.

A unicameral bone cyst, also known as a simple bone cyst, is a cavity filled with a yellow-colored fluid. It is considered to be benign since it does not spread beyond the bone. Unicameral bone cysts can be classified into two categories: active and latent. An active cyst is adjacent to the epiphyseal plate and tends to grow until it fills the entire diaphysis, the shaft, of the bone; depending on the invasiveness of the cyst, it can cause a pathological fracture or even destroy the epiphyseal plate leading to the permanent shortening of the bone. A latent cyst is located away from the epiphyseal plate and is more likely to heal with treatment. It is typically diagnosed in children from the aged 5 to 15. Although unicameral bone cysts can form in any bone structure, it is predominantly found in the proximal humerus and proximal femur; additionally, it affects males twice as often as females.

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.