There is no consensus on what degree of angulation justifies a diagnosis, an incline between 15° and 30° is typical. A similar-sounding term, camptodactyly, is a fixed flexion deformity of a digit.

Wobblers is definitively diagnosed by x-ray, nuclear scintography or bone scan. X-rays will show channel widening or filling the easiest and are often most cost effective to horse owners. X-rays will also show any structural anomaly, arthritis, facet remodeling, or bone spurs present. Preliminary diagnosis can be made by ultrasound but x-rays are needed to measure the true depth of facet involvement. For extent of damage to associated structures, veterinarians may opt to have the horse undergo a bone scan or nuclear scintography.

A combination of medical tests are used to diagnosis kniest dysplasia. These tests can include:

- Computer Tomography Scan(CT scan) - This test uses multiple images taken at different angles to produce a cross-sectional image of the body.

- Magnetic Resonance Imaging (MRI) - This technique proves detailed images of the body by using magnetic fields and radio waves.

- EOS Imaging - EOS imaging provides information on how musculoskeletal system interacts with the joints. The 3D image is scanned while the patient is standing and allows the physician to view the natural, weight-bearing posture.

- X-rays - X-ray images will allow the physician to have a closer look on whether or not the bones are growing abnormally.

The images taken will help to identify any bone anomalies. Two key features to look for in a patient with kniest dysplasia is the presence of dumb-bell shaped femur bones and coronal clefts in the vertebrae. Other features to look for include:

- Platyspondyly (flat vertebral bodies)

- Kyphoscoliosis (abnormal rounding of the back and lateral curvature of the spine)

- Abnormal growth of epiphyses, metaphyses, and diaphysis

- Short tubular bones

- Narrowed joint spaces

Genetic Testing - A genetic sample may be taken in order to closely look at the patient's DNA. Finding an error in the COL2A1 gene will help identify the condition as a type II chondroldysplasia.

The heterogeneity of the Klippel–Feil syndrome has made it difficult to outline the diagnosis as well as the prognosis classes for this disease. Because of this, it has complicated the exact explanation of the genetic cause of the syndrome.

The prognosis for most individuals with KFS is good if the disorder is treated early on and appropriately. Activities that can injure the neck should be avoided, as it may contribute to further damage. Other diseases associated with the syndrome can be fatal if not treated, or if found too late to be treatable.

Treatment for Klippel–Feil syndrome is symptomatic and may include surgery to relieve cervical or craniocervical instability and constriction of the spinal cord, and to correct scoliosis.

Failing non-surgical therapies, spinal surgery may provide relief. Adjacent segment disease and scoliosis are two examples of common symptoms associated with Klippel–Feil syndrome, and they may be treated surgically. The three categories treated for types of spinal cord deficiencies are massive fusion of the cervical spine (Type I), the fusion of 1 or 2 vertebrae (Type II), and the presence of thoracic and lumbar spine anomalies in association with type I or type II Klippel–Feil syndrome (Type III).

Adjacent segment disease can be addressed by performing cervical disc arthroplasty using a device such as the Bryan cervical disc prosthesis.

The option of the surgery is to maintain range of motion and attenuate the rate of adjacent segment disease advancement without fusion.

Another type of arthroplasty that is becoming an alternate choice to spinal fusion is Total Disc Replacement. Total disc replacement objective is to reduce pain or eradicate it.

Spinal fusion is commonly used to correct spinal deformities such as scoliosis. Arthrodesis is the last resort in pain relieving procedures, usually when arthroplasties fail.

There are multiple techniques used in the diagnosis of spondylosis, these are;

- Cervical Compression Test, a variant of Spurling's test, is performed by laterally flexing the patient's head and placing downward pressure on it. Neck or shoulder pain on the ipsilateral side (i.e. the side to which the head is flexed) indicates a positive result for this test. However it should be noted that a positive test result is not necessarily a positive result for spondylosis and as such additional testing is required.

- Lhermitte sign: feeling of electrical shock with patient neck flexion

- Reduced range of motion of the neck, the most frequent objective finding on physical examination

- MRI and CT scans are helpful for pain diagnosis but generally are not definitive and must be considered together with physical examinations and history.

Exact diagnosis remains widely built on precise history taking, with the characteristic clinical and radiographic skeletal features. Genetic diagnosis is based on DNA sequencing. Because plasma COMP levels are significantly reduced in patients with COMP mutations, such as pseudoachondroplasia, measuring plasma COMP levels has become a reliable means of diagnosing this and pathopysiologically similar disorders.

In 1977, Dyck and Doyle reported on the bicycle test, a simple procedure in which the patient is asked to pedal on a stationary bicycle. If the symptoms are caused by peripheral vascular disease, the patient will experience claudication, a sensation of not getting enough blood to the legs; if the symptoms are caused by lumbar stenosis, symptoms will be relieved when the patient is leaning forward while bicycling. Although diagnostic progress has been made with newer technical advances, the bicycle test remains an inexpensive and easy way to distinguish between claudication caused by vascular disease and spinal stenosis.

Due to a developmental arrest there is an abnormal alignment of the joint surfaces at either interphalangeal joint causing angulation in the plane of the palm. The finger may be slightly bent or have a very prominent bend.

MRI is the preferred method of diagnosing and evaluating spinal stenosis of all areas of the spine, including cervical, thoracic and lumbar. MRI is useful to diagnose cervical spondylotic myelopathy (degenerative arthritis of the cervical spine with associated damage to the spinal cord). The finding of degeneration of the cervical spinal cord on MRI can be ominous; the condition is called myelomalacia or cord degeneration. It is seen as an increased signal on the MRI. In myelopathy (pathology of the spinal cord) from degenerative changes, the findings are usually permanent and decompressive laminectomy will not reverse the pathology. Surgery can stop the progression of the condition. In cases where the MRI changes are due to Vitamin B-12 deficiency, a brighter prospect for recovery can be expected.

The diagnosis of spinal stenosis involves a complete evaluation of the spine. The process usually begins with a medical history and physical examination. X-ray and MRI scans are typically used to determine the extent and location of the nerve compression.

A spinal tap is performed in the low back with dye injected into the spinal fluid. X-Rays are performed followed by a CT scan of the spine to help see narrowing of the spinal canal.

This is a very effective study in cases of lateral recess stenosis. It is also necessary for patients in which MRI is contraindicated, such as those with implanted pacemakers.

Accurate assessment of plain radiographic findings remains an important contributor to diagnosis of pseudoachondroplasia. It is noteworthy that vertebral radiographic abnormalities tend to resolve over time. Epiphyseal abnormalities tend to run a progressive course. Patients usually suffer early-onset arthritis of hips and knees. Many unique skeletal radiographic abnormalities of patients with pseudoachondroplasia have been reported in the literature.

- Together with rhizomelic limb shortening, the presence of epiphyseal-metaphyseal changes of the long bones is a distinctive radiologic feature of pseudoachondroplasia.

- Hypoplastic capital femoral epiphyses, broad short femoral necks, coxa vara, horizontality of acetabular roof and delayed eruption of secondary ossification center of os pubis and greater trochanter.

- Dysplastic/hypoplastic epiphyses especially of shoulders and around the knees.

- Metaphyseal broadening, irregularity and metaphyseal line of ossification. These abnormalities that are typically encountered in proximal humerus and around the knees are collectively known as “rachitic-like changes”.

- Radiographic lesions of the appendicular skeleton are typically bilateral and symmetric.

- Oval shaped vertebrae with anterior beak originating and platyspondyly demonstrated on lateral radiographs of the spine.

- Normal widening of the interpedicular distances caudally demonstrated on anteroposterior radiographs of the dorsolumbar region. This is an important differentiating feature between pseudoachondroplasia and achondroplasia.

- Odontoid hypoplasia may occur resulting in cervical instability.

The diagnosis process might include a physician who tests that the movement, strength, and sensation of the arms and legs are normal. The spine is examined for its range of motion and any pain that may arise from movement. Blood work might be utilized in addition to radiographic imaging in order to identify spinal cord diseases. Basic imaging techniques, which includes x-ray imaging, can reveal degenerative changes of the spine, while more advanced imaging techniques, such as computed tomography (CT) and magnetic resonance imaging (MRI), can allow visualization of more detailed anatomical structures, including that of the associated nerves and muscles. The most detailed and specific testing is electrodiagnostic, which helps to uncover whether the appropriate electrical signals are being sent to each muscle from the correlate nerves. This aids in localizing a problem's source. There are risks to be considered with any diagnostic testing. For example, in the case of CT imaging, there is obvious benefit over x-ray in that a more thorough picture of the anatomy is exposed, but there is a trade-off in that CT has around a 10-fold increased radiation exposure; alternatively, while MRI provides highly detailed imaging of the anatomy with the benefit of no radiation exposure to the patient, the high cost of this test must be taken into account.

The presence of a cervical rib can cause a form of thoracic outlet syndrome due to compression of the lower trunk of the brachial plexus or subclavian artery. These structures become encroached upon by the cervical rib and scalene muscles.

Compression of the brachial plexus may be identified by weakness of the muscles around the muscles in the hand, near the base of the thumb. Compression of the subclavian artery is often diagnosed by finding a positive Adson's sign on examination, where the radial pulse in the arm is lost during abduction and external rotation of the shoulder. A positive Adson's sign is non-specific for the presence of a cervical rib however, as many individuals without a cervical rib will have a positive test.

Prenatal Diagnosis:

- Aymé, "et al." (1989) reported prenatal diagnosis of Fryns syndrome by sonography between 24 and 27 weeks.

- Manouvrier-Hanu et al. (1996) described the prenatal diagnosis of Fryns syndrome by ultrasonographic detection of diaphragmatic hernia and cystic hygroma. The diagnosis was confirmed after termination of the pregnancy. The fetus also had 2 erupted incisors; natal teeth had not been mentioned in other cases of Fryns syndrome.

Differential Diagnosis:

- McPherson et al. (1993) noted the phenotypic overlap between Fryns syndrome and the Pallister–Killian syndrome (601803), which is a dysmorphic syndrome with tissue-specific mosaicism of tetrasomy 12p.

- Veldman et al. (2002) discussed the differentiation between Fryns syndrome and Pallister–Killian syndrome, noting that differentiation is important to genetic counseling because Fryns syndrome is an autosomal recessive disorder and Pallister–Killian syndrome is usually a sporadic chromosomal aberration. However, discrimination may be difficult due to the phenotypic similarity. In fact, in some infants with 'coarse face,' acral hypoplasia, and internal anomalies, the initial diagnosis of Fryns syndrome had to be changed because mosaicism of isochromosome 12p was detected in fibroblast cultures or kidney tissue. Although congenital diaphragmatic hernia is a common finding in both syndromes, bilateral congenital diaphragmatic hernia had been reported only in patients with Fryns syndrome until the report of the patient with Pallister–Killian syndrome by Veldman et al. (2002).

- Slavotinek (2004) reviewed the phenotypes of 52 reported cases of Fryns syndrome and reevaluated the diagnostic guidelines. She concluded that congenital diaphragmatic hernia and distal limb hypoplasia are strongly suggestive of Fryns syndrome, with other diagnostically relevant findings including pulmonary hypoplasia, craniofacial dysmorphism, polyhydramnios, and orofacial clefting. Slavotinek (2004) stated that other distinctive anomalies not mentioned in previous guidelines include ventricular dilatation or hydrocephalus, agenesis of the corpus callosum, abnormalities of the aorta, dilatation of the ureters, proximal thumbs, and broad clavicles.

The term thanatophoric is Greek for "death bearing". Children with this condition are usually stillborn or die shortly after birth from respiratory failure, however a small number of individuals have survived into childhood and a very few beyond. Survivors have difficulty breathing on their own and require respiratory support such as high flow oxygen through a canula or ventilator support via tracheostomy. There may also be evidence of spinal stenosis and seizures.

The oldest known living TD survivor is a 29-year-old female. One male lived to be 26 years old. Another male lived to age 20. TD survivor, Chrisopher Álvarez, 18, is Colombian living in New York. Two children with TD aged 10 and 12, a male and a female, are known in Germany. There is also a 6-year-old male living with TD and two 1-year old males.

Several indirect measurements on CT can be used to assess ligamentous integrity at the craniocervical junction. The Wackenheim line, a straight line extending along the posterior margin of the clivus through the dens, normally intersects the posterior margin of the tip of the dens on plain film. The basion to axion interval, or BAI, is also used, which is determined by measuring the distance between an imaginary vertical line at the anterior skull base, or basion, at the foramen magnum, and the axis of the cervical spine along its posterior margin, which should measure 12 mm, an assessment more reliable on radiograph than CT. The distance between the atlas and the occipital condyles, the atlanto-occipital interval (AOI), should measure less than 4 mm, and is better assessed on coronal images.

The distances between the dens and surrounding structures are also key features that can suggest the diagnosis, with the normal distance between the dens and basion (BDI) measuring less than 9 mm on CT, and the distance between the dens and atlas (ADI) measuring less than 3 mm on CT, although this can be increased in cases of rheumatoid arthritis due to pannus formation. Lastly, the atlanto-occipital interval can be measured.

The Powers ratio was formerly used, which was the tip of the basion to the spinolaminar line, divided by the distance from the tip of the opisthion to the midpoint of the posterior aspect of the anterior arch of C1. It is no longer recommended due to low sensitivity and difficulty identifying landmarks. It also will miss vertical or posterior displacement of the cervical spine.

Because kniest dysplasia can affect various body systems, treatments can vary between non-surgical and surgical treatment. Patients will be monitored over time, and treatments will be provided based on the complications that arise.

A cervical rib in humans is an extra rib which arises from the seventh cervical vertebra. Sometimes known as "neck ribs", their presence is a congenital abnormality located above the normal first rib. A cervical rib is estimated to occur in 0.2% (1 in 500 people) to 0.5% of the population. People may have a cervical rib on the right, left or both sides.

Most cases of cervical ribs are not clinically relevant and do not have symptoms; cervical ribs are generally discovered incidentally. However, they vary widely in size and shape, and in rare cases, they may cause problems such as contributing to thoracic outlet syndrome, because of pressure on the nerves that may be caused by the presence of the rib.

A cervical rib represents a persistent ossification of the C7 lateral costal element. During early development, this ossified costal element typically becomes re-absorbed. Failure of this process results in a variably elongated transverse process or complete rib that can be anteriorly fused with the T1 first rib below.

On imaging, cervical ribs can be distinguished because their transverse processes are directed inferolaterally, whereas those of the adjacent thoracic spine are directed anterolaterally.

If a contracture is less than 30 degrees, it may not interfere with normal functioning. The common treatment is splinting and occupational therapy. Surgery is the last option for most cases as the result may not be satisfactory.

Treatment involves fixation of the cervical spine to the skull base, or occipitocervical fusion, using paramedian rods and transpedicular screws with cross-links for stabilization. The patient is subsequently unable to rotate their head in the horizontal plane. If there is obstructive hydrocephalus, a pseudomeningocele can form, which is decompressed at the time of surgery.

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.

A diagnosis can be made using clinical examination, laryngoscope examination, and/or radiographic studies.

The indication to surgically stabilize a cervical fracture can be estimated from the "Subaxial Injury Classification" (SLIC). In this system, a score of 3 or less indicates that conservative management is appropriate, a score of 5 or more indicates that surgery is needed, and a score of 4 is equivocal. The score is the sum from 3 different categories: morphology, discs and ligaments, and neurology: