Achondroplasia is a genetic disorder with an autosomal dominant pattern of inheritance whose primary feature is dwarfism. It is the most common cause of dwarfism and affects about 1 in 27,500 people. In those with the condition, the arms and legs are short, while the torso is typically of normal length. Those affected have an average adult height of 131 centimetres for males and 123 centimetres (4 ft) for females. Other features can include an enlarged head with prominent forehead and underdevelopment of the midface. Complications can include sleep apnea or recurrent ear infections. Achondroplasia includes the extremely rare short-limb skeletal dysplasia with severe combined immunodeficiency.
Scoliosis is a condition in which a person's spine has an irregular curve in the coronal plane. The curve is usually S- or C-shaped over three dimensions. In some, the degree of curve is stable, while in others, it increases over time. Mild scoliosis does not typically cause problems, but more severe cases can affect breathing and movement. Pain is usually present in adults, and can worsen with age. As the condition progresses, it may alter a person's life, and hence can also be considered a disability. It can be compared to kyphosis and lordosis, other abnormal curvatures of the spine which are in the sagittal plane (front-back) rather than the coronal (left-right).
Pott's disease, or Pott disease, named for British surgeon Percivall Pott who first described the symptoms in 1799, is tuberculosis of the spine, usually due to haematogenous spread from other sites, often the lungs. The lower thoracic and upper lumbar vertebrae areas of the spine are most often affected.
Kyphosis is an abnormally excessive convex curvature of the spine as it occurs in the thoracic and sacral regions. Abnormal inward concave lordotic curving of the cervical and lumbar regions of the spine is called lordosis.
Spondylosis is the degeneration of the vertebral column from any cause. In the more narrow sense it refers to spinal osteoarthritis, the age-related degeneration of the spinal column, which is the most common cause of spondylosis. The degenerative process in osteoarthritis chiefly affects the vertebral bodies, the neural foramina and the facet joints. If severe, it may cause pressure on the spinal cord or nerve roots with subsequent sensory or motor disturbances, such as pain, paresthesia, imbalance, and muscle weakness in the limbs.
A spinal cord injury (SCI) is damage to the spinal cord that causes temporary or permanent changes in its function. It is a destructive neurological and pathological state that causes major motor, sensory and autonomic dysfunctions.
Klippel–Feil syndrome (KFS), also known as cervical vertebral fusion syndrome, is a rare congenital condition characterized by the abnormal fusion of any two of the seven bones in the neck. It can result in a limited ability to move the neck and shortness of the neck, resulting in the appearance of a low hairline. Most people only have one or two of those symptoms so it may not be noticeable without medical imaging.
Morquio syndrome, also known as mucopolysaccharidosis type IV (MPS IV), is a rare metabolic disorder in which the body cannot process certain types of sugar molecules called glycosaminoglycans (AKA GAGs, or mucopolysaccharides). In Morquio syndrome, the specific GAG which builds up in the body is called keratan sulfate. This birth defect, which is autosomal recessive, is a type of lysosomal storage disorder. The buildup of GAGs in different parts of the body causes symptoms in many different organ systems. In the US, the incidence rate for Morquio syndrome is estimated at between 1 in 200,000 and 1 in 300,000 live births.
Spinal fusion, also called spondylodesis or spondylosyndesis, is a surgery performed by orthopaedic surgeons or neurosurgeons that joins two or more vertebrae. This procedure can be performed at any level in the spine and prevents any movement between the fused vertebrae. There are many types of spinal fusion and each technique involves using bone grafting—either from the patient (autograft), donor (allograft), or artificial bone substitutes—to help the bones heal together. Additional hardware is often used to hold the bones in place while the graft fuses the two vertebrae together. The placement of hardware can be guided by fluoroscopy, navigation systems, or robotics.
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.
Copenhagen disease, sometimes known as Copenhagen syndrome or progressive non-infectious anterior vertebral fusion (PAVF), is a very rare childhood spinal disorder of unknown cause, with distinctive radiological features. It is characterized by the progressive fusion of the anterior vertebral body in the thoracolumbar region of the spine.
Kyphoscoliosis describes an abnormal curvature of the spine in both the coronal and sagittal planes. It is a combination of kyphosis and scoliosis. This musculoskeletal disorder often leads to other issues in patients, such as under-ventilation of lungs, pulmonary hypertension, difficulty in performing day-to-day activities, and psychological issues emanating from anxiety about acceptance among peers, especially in young patients. It can also be seen in syringomyelia, Friedreich's ataxia, spina bifida, kyphoscoliotic Ehlers–Danlos syndrome (kEDS), and Duchenne muscular dystrophy due to asymmetric weakening of the paraspinal muscles.
Scheuermann's disease is a self-limiting skeletal disorder of childhood. Scheuermann's disease describes a condition where the vertebrae grow unevenly with respect to the sagittal plane; that is, the posterior angle is often greater than the anterior. This uneven growth results in the signature "wedging" shape of the vertebrae, causing kyphosis. It is named after Danish surgeon Holger Scheuermann.
Tethered cord syndrome (TCS) refers to a group of neurological disorders that relate to malformations of the spinal cord. Various forms include tight filum terminale, lipomeningomyelocele, split cord malformations (diastematomyelia), occult, dermal sinus tracts, and dermoids. All forms involve the pulling of the spinal cord at the base of the spinal canal, literally a tethered cord. The spinal cord normally hangs loose in the canal, free to move up and down with growth, and with bending and stretching. A tethered cord, however, is held taut at the end or at some point in the spinal canal. In children, a tethered cord can force the spinal cord to stretch as they grow. In adults the spinal cord stretches in the course of normal activity, usually leading to progressive spinal cord damage if untreated. TCS is often associated with the closure of a spina bifida. It can be congenital, such as in tight filum terminale, or the result of injury later in life.
Spinal disease refers to a condition impairing the backbone. These include various diseases of the back or spine ("dorso-"), such as kyphosis. Dorsalgia refers to back pain. Some other spinal diseases include spinal muscular atrophy, ankylosing spondylitis, scoliosis, lumbar spinal stenosis, spina bifida, spinal tumors, osteoporosis and cauda equina syndrome.
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 leaning forward. Severe symptoms may include loss of bladder control, loss of bowel control, or sexual dysfunction.
The vertebral column, also known as the spinal column, spine or backbone, is the core part of the axial skeleton in vertebrate animals. The vertebral column is the defining and eponymous characteristic of the vertebrate endoskeleton, where the notochord found in all chordates has been replaced by a segmented series of mineralized irregular bones called vertebrae, separated by fibrocartilaginous intervertebral discs. The dorsal portion of the vertebral column houses the spinal canal, an elongated cavity formed by alignment of the vertebral neural arches that encloses and protects the spinal cord, with spinal nerves exiting via the intervertebral foramina to innervate each body segments.
Cervicocranial syndrome or is a combination of symptoms that are caused by an abnormality in the cervical vertebrae leading to improper function of cervical spinal nerves. Cervicocranial syndrome is either congenital or acquired. Cervicocranial syndrome may be caused by Chiari disease, Klippel-Feil malformation, osteoarthritis, and physical trauma. Treatment options include neck braces, pain medication and surgery. The quality of life for individuals suffering from Cervicocranial syndrome can improve through surgery.
Iliocostal friction syndrome, also known as costoiliac impingement syndrome, is a condition in which the costal margin comes in contact with the iliac crest. The condition presents as low back pain which may radiate to other surrounding areas as a result of irritated nerve, tendon, and muscle structures. It may occur unilaterally due to conditions such as scoliosis, or bilaterally due to conditions such as osteoporosis and hyperkyphosis.
Rigid spine syndrome, also known as congenital muscular dystrophy with rigidity of the spine (CMARS), is a rare and often debilitating neuromuscular disorder. It is characterized by progressive muscle stiffness and rigidity, particularly in the spine, which can severely limit mobility and impact quality of life. This condition is typically present from birth or early childhood and tends to worsen over time.
