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Vertebral anomalies is associated with an increased incidence of some other specific anomalies as well, together being called the VACTERL association:
- V - "Vertebral anomalies"
- A - Anal atresia
- C - Cardiovascular anomalies
- T - Tracheoesophageal fistula
- E - Esophageal atresia
- R - Renal (Kidney) and/or radial anomalies
- L - Limb defects
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.
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.
Diastematomyelia (occasionally diastomyelia) is a congenital disorder in which a part of the spinal cord is split, usually at the level of the upper lumbar vertebra.
Diastematomyelia is a rare congenital anomaly that results in the "splitting" of the spinal cord in a longitudinal (sagittal) direction. Females are affected much more commonly than males. This condition occurs in the presence of an osseous (bone), cartilaginous or fibrous septum in the central portion of the spinal canal which then produces a complete or incomplete sagittal division of the spinal cord into two hemicords. When the split does not reunite distally to the spur, the condition is referred to as a diplomyelia, or true duplication of the spinal cord.
Gibbus deformity is a form of structural kyphosis typically found in the upper lumbar and lower thoracic vertebrae, where one or more adjacent vertebrae become wedged. Gibbus deformity most often develops in young children as a result of spinal tuberculosis and is the result of collapse of vertebral bodies. This can in turn lead to spinal cord compression causing paraplegia.
In addition to tuberculosis, other possible causes of gibbus deformity include pathological diseases, hereditary and congenital conditions, and physical trauma to the spine that results in injury. Gibbus deformity may result from the sail vertebrae associated with cretinism (the childhood form of hypothyroidism), mucopolysaccharidosis (MPS), and certain congenital syndromes, including achondroplasia. Because most children with MPS I (Hurler Syndrome) also exhibit symptoms of a gibbus deformity, the latter can possibly be used to identify the former.
Gibbus deformity is included in a subset of structural kyphosis that is distinguished by a higher-degree angle in the spinal curve that is specific to these forms of kyphosis. Other conditions within this subset include Pott’s disease and Scheuermann kyphosis, but gibbus deformity is marked by an especially sharp angle. Viewed from behind, the resulting hunchback is more easily seen when bending forward. A kyphosis of >70° can be an indication of the need for surgery and these surgeries can be necessary for children as young as two years old, with a reported average of 8 years of age.
The vertebral column, also known as the backbone or spine, is part of the axial skeleton. The vertebral column is the defining characteristic of a vertebrate, in which the notochord (a flexible rod of uniform composition) found in all chordates has been replaced by a segmented series of bones—vertebrae separated by intervertebral discs. The vertebral column houses the spinal canal, a cavity that encloses and protects the spinal cord.
There are about 50,000 species of animals that have a vertebral column. The human vertebral column is one of the most-studied examples.
Wobbler disease is a catchall term referring to several possible malformations of the cervical vertebrae that cause an unsteady (wobbly) gait and weakness in dogs and horses. A number of different conditions of the cervical (neck) spinal column cause similar clinical signs. These conditions may include malformation of the vertebrae, intervertebral disc protrusion, and disease of the interspinal ligaments, ligamenta flava, and articular facets of the vertebrae. Wobbler disease is also known as cervical vertebral instability, cervical spondylomyelopathy (CSM), and cervical vertebral malformation (CVM). In dogs, the disease is most common in large breeds, especially Great Danes and Doberman Pinschers. In horses, it is not linked to a particular breed, though it is most often seen in tall, race-bred horses of Thoroughbred or Standardbred ancestry. It is most likely inherited to at least some extent in dogs and horses.
Wobbler disease is probably inherited in the Borzoi, Great Dane, Doberman, and Basset Hound. Instability of the vertebrae of the neck (usually the caudal neck) causes spinal cord compression. In younger dogs such as Great Danes less than two years of age, wobbler disease is caused by stenosis (narrowing) of the vertebral canal related to degeneration of the dorsal articular facets and subsequent thickening of the associated joint capsules and ligaments. A high-protein diet may contribute to its development. In middle-aged and older dogs such as Dobermans, intervertebral disc disease leads to bulging of the disc or herniation of the disc contents, and the spinal cord is compressed. In Great Danes, the C to C vertebrae are most commonly affected; in Dobermans, the C to C vertebrae are affected.
The disease tends to be gradually progressive. Symptoms such as weakness, ataxia, and dragging of the toes start in the rear legs. Dogs often have a crouching stance with a downward flexed neck. The disease progresses to the front legs, but the symptoms are less severe. Neck pain is sometimes seen. Symptoms are usually gradual in onset, but may progress rapidly following trauma. X-rays may show misaligned vertebrae and narrow disk spaces, but it is not as effective as a myelogram, which reveals stenosis of the vertebral canal. Magnetic resonance imaging has been shown to be more effective at showing the location, nature, and severity of spinal cord compression than a myelogram. Treatment is either medical to control the symptoms, usually with corticosteroids and cage rest, or surgical to correct the spinal cord compression. The prognosis is guarded in either case. Surgery may fully correct the problem, but it is technically difficult and relapses may occur. Types of surgery include ventral decompression of the spinal cord (ventral slot technique), dorsal decompression, and vertebral stabilization. One study showed no significant advantage to any of the common spinal cord decompression procedures. Another study showed that electroacupuncture may be a successful treatment for Wobbler disease. A new surgical treatment using a proprietary medical device has been developed for dogs with disc-associated wobbler disease. It implants an artificial disc (cervical arthroplasty) in place of the affected disc space.
The signs and symptoms of diastematomyelia may appear at any time of life, although the diagnosis is usually made in childhood. Cutaneous lesions (or stigmata), such as a hairy patch, dimple, Hemangioma, subcutaneous mass, Lipoma or Teratoma override the affected area of the spine is found in more than half of cases. Neurological symptoms are nonspecific, indistinguishable from other causes of cord tethering. The symptoms are caused by tissue attachments that limit the movement of the spinal cord within the spinal column. These attachments cause an abnormal stretching of the spinal cord.
The course of the disorder is progressive. In children, symptoms may include the "stigmata" mentioned above and/or foot and spinal deformities; weakness in the legs; low back pain; scoliosis; and incontinence. In adulthood, the signs and symptoms often include progressive sensory and motor problems and loss of bowel and bladder control. This delayed presentation of symptoms is related to the degree of strain placed on the spinal cord over time.
Tethered spinal cord syndrome appears to be the result of improper growth of the neural tube during fetal development, and is closely linked to spina bifida.
Tethering may also develop after spinal cord injury and scar tissue can block the flow of fluids around the spinal cord. Fluid pressure may cause cysts to form in the spinal cord, a condition called syringomyelia. This can lead to additional loss of movement, feeling or the onset of pain or autonomic symptoms.
Cervical diastematomyelia can become symptomatic as a result of acute trauma, and can cause major neurological deficits, like hemiparesis, to result from otherwise mild trauma.
The following definitions may help to understand some of the related entities:
- Diastematomyelia (di·a·stem·a·to·my·elia) is a congenital anomaly, often associated with spina bifida, in which the spinal cord is split into halves by a bony spicule or fibrous band, each half being surrounded by a dural sac.
- Myeloschisis (my·elos·chi·sis) is a developmental anomaly characterized by a cleft spinal cord, owing to failure of the neural plate to form a complete neural tube or to rupture of the neural tube after closure.
- Diplomyelia (diplo.my.elia) is a true duplication of spinal cord in which these are two dural sacs with two pairs of anterior and posterior nerve roots.
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.
Excessive or abnormal spinal curvature is classed as a spinal disease or dorsopathy and includes the following abnormal curvatures:
- Kyphosis is an exaggerated kyphotic (concave) curvature in the thoracic region, also called hyperkyphosis. This produces the so-called "humpback" or "dowager's hump", a condition commonly resulting from osteoporosis.
- Lordosis as an exaggerated lordotic (convex) curvature of the lumbar region, is known as lumbar hyperlordosis and also as "swayback". Temporary lordosis is common during pregnancy.
- Scoliosis, lateral curvature, is the most common abnormal curvature, occurring in 0.5% of the population. It is more common among females and may result from unequal growth of the two sides of one or more vertebrae, so that they do not fuse properly. It can also be caused by pulmonary atelectasis (partial or complete deflation of one or more lobes of the lungs) as observed in asthma or pneumothorax.
- Kyphoscoliosis, a combination of kyphosis and scoliosis.
Studies have shown that obesity of the mother increases the risk of neural tube disorders such as iniencephaly by 1.7 fold while severe obesity increases the risk by over 3 fold.
Once a mother has given birth to a child with iniencephaly, risk of reoccurrence increases to 1-5%.
A bifid rib (bifurcated rib or sternum bifidum) is a congenital abnormality of the rib cage and associated muscles and nerves which occurs in about 1.2% of humans. Bifid ribs occur in up to 8.4% of Samoans. The sternal end of the rib is cleaved into two. It is usually unilateral.
Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest X-ray. Effects of this neuroskeletal anomaly can include respiratory difficulties, neurological difficulties, limitations, and limited energy from the stress of needing to compensate for the neurophysiological difficulties. Another association is with odontogenic keratocysts (OKC [a.k.a keratocystic odontogenic tumor (WHO terminology)]) of the jaw which may behave aggressively and have a high propensity to recur when treated with simple enucleation and curettage. When seen together, the patient is likely to have Nevoid Basal Cell Carcinoma Syndrome (a.k.a. Gorlin-Goltz syndrome) and should be evaluated with this in mind.
A pelvic digit, pelvic finger, or pelvic rib is a rare congenital abnormality in humans, in which bone tissue develops in the soft tissue near the pelvis, resembling a rib or finger and often divided into one or more segments with pseudo-articulations. Pelvic digits are typically benign and asymptomatic, and are usually discovered accidentally. Approximately 41 cases have been reported.
The pelvic digit was first reported by D. Sullivan and W.S. Cornwell in 1974. Pelvic digits may be located at any level of the pelvis, the lower ribs, or even the anterior abdominal wall. It is theorized that pelvic digit anomalies arise during the mesenchymal stage of bone growth, within the first six weeks of embryogenesis. Their formation may result from a failure of the primordium of the coccyx to fuse to the vertebral column, leading to the independent development of a proto-rib structure.
Rocker bottom foot, also known as congenital vertical talus, is an anomaly of the foot. It is characterized by a prominent calcaneus (heel bone) and a convex rounded bottom of the foot. It gets its name from the foot's resemblance to the bottom of a rocking chair.
It can be associated with Edwards' syndrome (trisomy 18), Patau syndrome (trisomy 13), Trisomy 9 and mutation in the gene HOXD10.
It can also be associated with Charcots foot.
According to the National Human Genome Research Institute, Poland syndrome affects males three times as often as females and affects the right side of the body twice as often as the left. The incidence is estimated to range from one in 7,000 to one in 100,000 live births.
"Infant’s persistent thumb-clutched hand, flexion-adduction deformity of the thumb, pollex varus, thumb in the hand deformity."
Congenital clasped thumb describes an anomaly which is characterized by a fixed thumb into the palm at the metacarpophalangeal joint in one or both hands.
The incidence and genetic background are unknown. A study of Weckesser et al. showed that boys are twice as often affected with congenital clasped thumb compared to girls. The anomaly is in most cases bilateral (present in both hands).
A congenital clasped thumb can be an isolated anomaly, but can also be attributed to several syndromes.
The cause of Poland syndrome is unknown. However, an interruption of the embryonic blood supply to the arteries that lie under the collarbone (subclavian arteries) at about the 46th day of embryonic development is the prevailing theory.
The subclavian arteries normally supply blood to embryonic tissues that give rise to the chest wall and hand. Variations in the site and extent of the disruption may explain the range of signs and symptoms that occur in Poland syndrome. Abnormality of an embryonic structure called the apical ectodermal ridge, which helps direct early limb development, may also be involved in this disorder.
In chiropractic, vertebral subluxation is a purported misalignment of the spinal column, not necessarily visible on X-rays, leading to a set of signs and symptoms sometimes termed vertebral subluxation complex. It has no biomedical basis, lacks clinical meaningfulness, and is categorized as pseudoscientific by leading chiropractic authorities. Traditionally, the "specific focus of chiropractic practice" is the chiropractic subluxation and historical chiropractic practice assumes that a vertebral subluxation or spinal joint dysfunction interferes with the body's function and its innate intelligence, as promulgated by D. D. Palmer, the inventor of chiropractic.
The chiropractic subluxation is the heart of the split between "straight" and "mixer" chiropractors. Straight chiropractors continue to follow Palmer's vitalistic tradition, claiming that subluxation has considerable health effects and also adding a visceral component to the definition, while mixers, as exemplified by the United Kingdom's General Chiropractic Council, consider it a historical concept with no evidence identifying it as the cause of disease.
Within the chiropractic tradition, a vertebral subluxation complex is believed to be a dysfunctional biomechanical spinal segment which actively alters neurological function, which in turn, is believed to lead to neuromusculoskeletal and visceral disorders. The WHO acknowledges this difference between the medical and chiropractic definitions of a subluxation: medical doctors only refer to "significant structural displacements" as subluxations, whereas chiropractors suggest that a dysfunctional segment, whether displaced significantly or not, should be referred to as a subluxation. This difference has been noted in the proceedings of the chiropractic profession's "Mercy Center Consensus Conference": "The chiropractic profession refers to this concept as a 'subluxation'. This use of the word "subluxation" should not be confused with the term's precise anatomic usage, which considers only the anatomical relationships."
The chiropractic vertebral subluxation complex has been a source of controversy since its inception in 1895 due to the lack of empirical evidence for its existence, its metaphysical origins, and claims of its far reaching effects on health and disease. Although some chiropractic associations and colleges support the concept of subluxation, many in the chiropractic profession reject it and shun the use of this term as a diagnosis. In the United States and in Canada the term "nonallopathic lesion" may be used in place of "subluxation".
A 2009 review concluded that epidemiologic evidence does not support the chiropractic subluxation, concluding:
In 2015, internationally accredited chiropractic colleges from Bournemouth University, University of South Wales, University of Southern Denmark, University of Zürich, Institut Franco-Européen de Chiropraxie, and University of Johannesburg made an open statement which included: "The teaching of the vertebral subluxation complex as a vitalistic construct that claims that it is the cause of disease is unsupported by evidence. Its inclusion in a modern chiropractic curriculum in anything other than an historic context is therefore inappropriate and unnecessary".
The incidence of VACTERL association is estimated to be approximately 1 in 10,000 to 1 in 40,000 live-born infants. It is seen more frequently in infants born to diabetic mothers. While most cases are sporadic, there are clearly families who present with multiple involved members.
Patients with abnormal cardiac and kidney function may be more at risk for hemolytic uremic syndrome
It has been proposed that a vertebral subluxation can negatively affect general health by altering the neurological communication between the brain, spinal cord and peripheral nervous system. Although individuals may not always be symptomatic, straight chiropractors believe that the presence of vertebral subluxation is in itself justification for correction via spinal adjustment.
Chiropractic treatment of vertebral subluxation focuses on delivering a chiropractic adjustment which is a high velocity low amplitude (HVLA) thrust to the dysfunctional spinal segments to help correct the chiropractic subluxation complex. Spinal adjustment is the primary procedure used by chiropractors in the adjustment. Adjustment/manipulation has been shown to help with low back pain, neck pain and tension type headaches, but further studies are inconclusive on the use of spinal manipulation outside the treatment of neuromusculoskeletal disorders.
Type II should be managed conservatively whereas type I and Ia requires to be treated surgically. Surgery involves four major steps:
- Development of the calcaneal part of the foot
- Repositioning of the navicular bone
- New adjustment of the ankle, and
- Various stabilization measures including the Grice operation and transposition of various tendons.
These lesions usually present in neonates, although they may not come to clinical attention until adulthood (for cosmetic reasons). There is no gender predilection. They are present in approximately 3-6 per 1000 live births.