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.

Sprengel's deformity (also known as high scapula or congenital high scapula) is a rare congenital skeletal abnormality where a person has one shoulder blade that sits higher on the back than the other. The deformity is due to a failure in early fetal development where the shoulder fails to descend properly from the neck to its final position. The deformity is commonly associated with other conditions, most notably Klippel-Feil syndrome, congenital scoliosis including cervical scoliosis, fused ribs, the presence of an omovertebral bone and spina bifida. The left shoulder is the most commonly affected shoulder but the condition can be bilateral, meaning that both shoulders are affected. About 75% of all observed cases are girls. Treatment includes surgery in early childhood and physical therapy. Surgical treatment in adulthood is complicated by the risk of nerve damage when removing the omovertebral bone and when stretching the muscle tissue during relocation of the shoulder.

The scapula is small and rotated so that its inferior edge points toward the spine. There is a high correlation between Sprengel's deformity and the Klippel-Feil syndrome. Sometimes a bony connection is present between the elevated scapula and one of the cervical vertebrae, usually C5 or C6. This connection is known as the omovertebral bone.

Numerous associated abnormalities of other organ systems may be present. This heterogeneity requires comprehensive evaluation of all patients and treatment regimes that can vary from modification of activities to extensive spinal surgeries. Furthermore, it is unclear whether Klippel–Feil syndrome is a unique disease, or if it is one part of a spectrum of congenital spinal deformities. Klippel–Feil syndrome is usually diagnosed after birth.

The most common sign of the disorder is restricted mobility of the neck and upper spine. A short neck and low hairline at the back of the head may occur in some patients.

Associated abnormalities may include:

- scoliosis (side-to-side curvature of the spine), which is abnormal curving of the spine. The spine sometimes appears as a "C" or an "S"

- spina bifida, when the spinal canal and the back bone do not close completely during birth

- anomalies of the kidneys and the ribs

- cleft palate (hole in the roof of the mouth)

- dental problems (late dentition, high-risk of caries, oligo- and hypodontia)

- respiratory problems

- heart malformations

- short stature

- Duane syndrome

- Approximately 35% of patients with Klippel–Feil syndrome will also have a congenital elevation of the scapula known as Sprengel's deformity

The disorder also may be associated with abnormalities of the head and face, skeleton, sex organs, muscles, brain and spinal cord, arms, legs, fingers and heart defects. These heart defects often lead to a shortened life expectancy, the average being 35–45 years of age among males and 40–50 among females. This condition is similar to the heart failure seen in gigantism.

In 2011, a study identifying the occurrence of symptoms of 100 patients was published.

Fractures are the most dangerous aspect of osteoporosis. Debilitating acute and chronic pain in the elderly is often attributed to fractures from osteoporosis and can lead to further disability and early mortality. These fractures may also be asymptomatic. The most common osteoporotic fractures are of the wrist, spine, shoulder and hip. The symptoms of a vertebral collapse ("compression fracture") are sudden back pain, often with radicular pain (shooting pain due to nerve root compression) and rarely with spinal cord compression or cauda equina syndrome. Multiple vertebral fractures lead to a stooped posture, loss of height, and chronic pain with resultant reduction in mobility.

Fractures of the long bones acutely impair mobility and may require surgery. Hip fracture, in particular, usually requires prompt surgery, as serious risks are associated with it, such as deep vein thrombosis and pulmonary embolism, and increased mortality.

Fracture risk calculators assess the risk of fracture based upon several criteria, including BMD, age, smoking, alcohol usage, weight, and gender. Recognized calculators include FRAX and Dubbo.

The term "established osteoporosis" is used when a broken bone due to osteoporosis has occurred. Osteoporosis is a part of frailty syndrome.

There are no symptoms, and no signs can be elicited on examination. Medical imaging such as traditional radiography or computed tomography is required to demonstrate the defect. Usually the defect is unilateral, but occasionally can be bilateral.

Osteoporosis itself has no symptoms; its main consequence is the increased risk of bone fractures. Osteoporotic fractures occur in situations where healthy people would not normally break a bone; they are therefore regarded as fragility fractures. Typical fragility fractures occur in the vertebral column, rib, hip and wrist.

An affected infant typically has the following triad of signs and symptoms: soft-tissue swelling, bone lesions, and irritability. The swelling occurs suddenly, is deep, firm, and may be tender. Lesions are often asymmetric and may affect several parts of the body. Affected bones have included the mandible, tibia, ulna, clavicle, scapula, ribs, humerus, femur, fibula, skull, ilium, and metatarsals. When the mandible (lower jaw bone) is affected, infants may refuse to eat, leading to failure to thrive.

The Stafne defect (also termed Stafne's idiopathic bone cavity, Stafne bone cavity, Stafne bone cyst (misnomer), lingual mandibular salivary gland depression, lingual mandibular cortical defect, latent bone cyst, or static bone cyst) is a depression of the mandible on the lingual surface (the side nearest the tongue). The Stafne defect is thought to be a normal anatomical variant, as the depression is created by ectopic salivary gland tissue associated with the submandibular gland and does not represent a pathologic lesion as such.

Hemivertebrae are wedge-shaped vertebrae and therefore can cause an angle in the spine (such as kyphosis, scoliosis, and lordosis).

Among the congenital vertebral anomalies, hemivertebrae are the most likely to cause neurologic problems. The most common location is the midthoracic vertebrae, especially the eighth (T8). Neurologic signs result from severe angulation of the spine, narrowing of the spinal canal, instability of the spine, and luxation or fracture of the vertebrae. Signs include rear limb weakness or paralysis, urinary or fecal incontinence, and spinal pain. Most cases of hemivertebrae have no or mild symptoms, so treatment is usually conservative. Severe cases may respond to surgical spinal cord decompression and vertebral stabilization.

Associations

Recognised associations are many and include:

Aicardi syndrome,

cleidocranial dysostosis,

gastroschisis 3,

Gorlin syndrome,

fetal pyelectasis 3,

Jarcho-Levin syndrome,

OEIS complex,

VACTERL association.

The probable cause of hemivertebrae is a lack of blood supply causing part of the vertebrae not to form.

Hemivertebrae in dogs are most common in the tail, resulting in a screw shape.

Klippel–Feil syndrome is a rare disease, initially reported in 1884 by Maurice Klippel and André Feil from France, characterized by the congenital fusion of any two of the seven cervical vertebrae.

The syndrome occurs in a heterogeneous group of patients unified only by the presence of a congenital defect in the formation or segmentation of the cervical spine. Klippel-Feil results in limited movement of the neck. Klippel–Feil syndrome is sometimes identified by shortness of the neck, but not all people with this disorder have a visibly shortened neck. Some people with the syndrome have a very low hairline.

In 1919, in his PhD thesis, André Feil suggested another classification of the syndrome encompassing not only deformation of the cervical spine but also deformation of the lumbar and thoracic spine.

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.

Congenital vertebral anomalies are a collection of malformations of the spine. Most around 85% are not clinically significant, but they can cause compression of the spinal cord by deforming the vertebral canal or causing instability. This condition occurs in the womb. Congenital vertebral anomalies include alterations of the shape and number of vertebrae.

Schmorl's nodes or Schmorl's nodules are protrusions of the nucleus pulposus of the intervertebral disc through the vertebral body endplate and into the adjacent vertebra.

There are several kinds of kyphosis (ICD-10 codes are provided):

- Postural kyphosis (M40.0), the most common type, normally attributed to slouching, can occur in both the old and the young. In the young, it can be called "slouching" and is reversible by correcting muscular imbalances. In the old, it may be a case of hyperkyphosis and called "dowager's hump". About one third of the most severe hyperkyphosis cases in older people have vertebral fractures. Otherwise, the aging body does tend towards a loss of musculoskeletal integrity, and hyperkyphosis can develop due to aging alone.

- Scheuermann's kyphosis (M42.0) is significantly worse cosmetically and can cause varying degrees of pain, and can also affect different areas of the spine (the most common being the midthoracic area). Scheuermann's kyphosis is considered a form of juvenile osteochondrosis of the spine, and is more commonly called Scheuermann's disease. It is found mostly in teenagers and presents a significantly worse deformity than postural kyphosis. A patient suffering from Scheuermann’s kyphosis cannot consciously correct posture. The apex of the curve, located in the thoracic vertebrae, is quite rigid. The patient may feel pain at this apex, which can be aggravated by physical activity and by long periods of standing or sitting. This can have a significantly detrimental effect on their lives, as their level of activity is curbed by their condition; they may feel isolated or uneasy amongst peers if they are children, depending on the level of deformity. Whereas in postural kyphosis, the vertebrae and discs appear normal, in Scheuermann’s kyphosis, they are irregular, often herniated, and wedge-shaped over at least three adjacent levels. Fatigue is a very common symptom, most likely because of the intense muscle work that has to be put into standing or sitting properly. The condition appears to run in families. Most patients who undergo surgery to correct their kyphosis have Scheuermann's disease.

- Congenital kyphosis (Q76.4) can result in infants whose spinal column has not developed correctly in the womb. Vertebrae may be malformed or fused together and can cause further progressive kyphosis as the child develops. Surgical treatment may be necessary at a very early stage and can help maintain a normal curve in coordination with consistent follow-ups to monitor changes. However, the decision to carry out the procedure can be very difficult due to the potential risks to the child. A congenital kyphosis can also suddenly appear in teenage years, more commonly in children with cerebral palsy and other neurological disorders.

- Nutritional kyphosis can result from nutritional deficiencies, especially during childhood, such as vitamin D deficiency (producing rickets), which softens bones and results in curving of the spine and limbs under the child's body weight.

- Gibbus deformity is a form of structural kyphosis, often a "sequela" to tuberculosis.

- Post-traumatic kyphosis (M84.0) can arise from untreated or ineffectively treated vertebral fractures.

Snapping Scapula Syndrome, also known as scapulocostal syndrome or scapulothoracic syndrome, is described by a “grating, grinding, popping or snapping sensation of the scapula onto the back side of the ribs or thoracic area of the spine” (Hauser). Disruption of the normal scapulothoracic mechanics causes this problem. The most common cases are found in young, active patients who tend to excessively use the overhead or throwing motion.

These are protrusions of disc material into the surface of the vertebral body, which may contact the marrow of the vertebra and lead to inflammation. The protrusions are also associated with necrosis of the vertebral bone and the question of whether these protrusions and inflammation cause the necrosis, or whether the cartilage migrates into areas that have become necrotic due to other conditions, is under investigation.

They may or may not be symptomatic, and their link to back pain is controversial. Williams and colleagues note that this relationship may be due to lumbar disc disease, as the two commonly occur simultaneously.

Robinow noted the resemblance of affected patients' faces to that of a fetus, using the term "fetal facies" to describe the appearance of a small face and widely spaced eyes. Clinical features also may include a short, upturned nose, a prominent forehead, and a flat nasal bridge. The upper lip may be "tented", exposing dental crowding, "tongue tie", or gum hypertrophy.

Though the eyes do not protrude, abnormalities in the lower eyelid may give that impression. Surgery may be necessary if the eyes cannot close fully. In addition, the ears may be set low on the head or have a deformed pinna.

Patients suffer from dwarfism, short lower arms, small feet, and small hands. Fingers and toes may also be abnormally short and laterally or medially bent. The thumb may be displaced and some patients, notably in Turkey, experience ectrodactyly. All patients often suffer from vertebral segmentation abnormalities. Those with the dominant variant have, at most, a single butterfly vertebra. Those with the recessive form, however, may suffer from hemivertebrae, vertebral fusion, and rib anomalies. Some cases resemble Jarcho-Levin syndrome or spondylocostal dysostosis.

Genital defects characteristically seen in males include a micropenis with a normally developed scrotum and testes. Sometimes, testicles may be undescended, or the patient may suffer from hypospadias. Female genital defects may include a reduced size clitoris and underdeveloped labia minora. Infrequently, the labia majora may also be underdeveloped. Some research has shown that females may experience vaginal atresia or haematocolpos.

The autosomal recessive form of the disorder tends to be much more severe. Examples of differences are summarized in the following table:

Very frequent signs

- Abnormal gastrointestinal tract

- Absent pectoral muscles

- Brachydactyly (Short fingers)

- Dextrocardia

- Diaphragmatic hernia/defect

- Humerus absent/abnormal

- Liver/biliary tract anomalies

- Maternal diabetes

- Oligodactyly/missing fingers

- Radius absent/abnormal

- Rhizomelic micromelia (relatively shorter proximal segment of the limbs compared to the middle and the distal segments)

- Sparsity or abnormality of axillary hair on affected side

- Syndactyly of fingers (webbing)

- Ulna absent/abnormal

- Upper limb asymmetry

- Abnormal rib

- Simian crease on affected side

Frequent signs

- Hypoplastic/absent nipples

- Scapula anomaly

Occasional signs

- Agenesis/hypoplasia of kidneys

- Encephalocele/exencephaly

- Abnormal morphology of hypothalamic-hypophyseal axis

- Abnormal function of hypothalamic-hypophyseal axis

- Microcephaly

- Preaxial polydactyly

- Ureteric anomalies (reflux/duplex system)

- Vertebral segmentation anomaly

Copenhagen disease, sometimes known as Copenhagen syndrome, refers to progressive non-infectious anterior vertebral fusion, a rare childhood disease of unknown cause.

It affects the lower back, as can be seen on MRI scans. It is characterised by a lack of disc height of the vertebrae.

Infantile cortical hyperostosis is a self-limited inflammatory disorder of infants that causes bone changes, soft tissue swelling and irritability. The disease may be present at birth or occur shortly thereafter. The cause is unknown. Both familial and sporadic forms occur. It is also known as Caffey disease or Caffey's disease.

One source of snapping scapula is when the muscles underneath the scapula (the subscapularis muscle) atrophies. This causes the scapula to become very close to the rib cage, eventually causing rubbing or bumping during arm/shoulder movement. Another cause is bursitis, which is when the tissues between the shoulder blade and thoracic wall inflame. Muscle and bone abnormalities in the shoulder area can also contribute to the pain.

Perthes lesion is variant of Bankart lesion, presenting as an anterior glenohumeral injury that occurs when the scapular periosteum remains intact but is stripped medially and the anterior labrum is avulsed from the glenoid but remains partially attached to the scapula by intact periosteum.

A Smith Fracture is a named vertebral fracture occurring most commonly in the lumbar spine. It is similar to that of a Chance fracture and is associated with seat belt injuries. This fracture represents a fracture through the posterior elements including the superior articular processes but not the spinous process, as well as an avulsion fracture of the vertebral body. This fracture is not to be confused with the more commonly referred to Smith's fracture of the wrist.