Trevor disease can often mimic posttraumatic osseous fragments, synovial chondromatosis, ostechondroma, or anterior spur of ankle. It is not possible to distinguish DEH from osteochondroma on the basis of histopathology alone. Special molecular tests of the genes EXT1, EXT2 are used for the analysis of genetic expressions. These are within normal ranges in DEH, while they are lower in ostechondroma (owing to a mutation). These tests are expensive and the diagnosis is often made on clinical and radiological findings. Synovial chondromatosis occurs in a much older age group and can be ruled out on this basis.

Most reported cases of DEH in the literature have been treated surgically, with excision of the mass, as well as by the correction

of any deformity, while preserving the integrity of the affected joint as much as possible.

A diagnosis can be made by an evaluation of medical history and clinical observation. The Beighton criteria are widely used to assess the degree of joint hypermobility. DNA and biochemical studies can help identify affected individuals. Diagnostic tests include collagen gene mutation testing, collagen typing via skin biopsy, echocardiogram, and lysyl hydroxylase or oxidase activity. However, these tests are not able to confirm all cases, especially in instances of an unmapped mutation, so clinical evaluation by a geneticist remains essential. If there are multiple affected individuals in a family, it may be possible to perform prenatal diagnosis using a DNA information technique known as a linkage study. There is poor knowledge about EDS among practitioners.

A team from the National Institute of Nutrition, Hyderabad conducted research in the affected regions and found out that the disease was confined to a dalit colony. They also found out that the disease was affecting people of all age groups and it was non-contagious and non-infectious. This research was further followed by research conducted over four years (1984–88) by the Indian Council of Medical Research (ICMR). Study groups involving experts from different medical fields were formed and these groups visited the affected places to conduct experiments. They were also helped by the Health Department of Karnataka who also provided a team to assist them. Despite undertaking extensive research, the team could not come into any conclusion on the cause of the disease. The team wound up in 1988 and this was the first phase of their research. The second phase of the research by ICMR was started in the year 2001 under the leadership of S. S. Agarwal of the Sanjay Gandhi Post-graduate centre in Lucknow. Some of the activities in the second phase were to x-ray the patients and also study their family history to see if the disease was related to genetics. The study reported that Handigodu syndrome is a syndrome of familial spondyloepi(meta)physeal dysplasia. It is inherited as an autosomal dominant trait. All the presentations of the varied manifestation of the disease could be explained as being caused by defective development of bones as a result of monogenic disorder.

Symptoms of the disease are an acute pain and swelling in the hips and knee joints. Some of the other characteristics of this disease are dwarfism from birth, deformation of the limbs after age seven and death as early as between 25 and 30 years or even younger. Depending on the mobility of the affected patients, the disease has been identified with three severities: in mild to moderate cases, the patient is able to walk with difficulty, in severe cases mobility is very restricted, whereas in acute cases the limbs are bent and badly crippled making the patients crawl.

The outlook for individuals with EDS depends on the type of EDS they have. Symptoms vary in severity, even within one sub-type, and the frequency of complications changes individually. Some people have negligible symptoms while others are severely restricted in their daily life. Extreme joint instability, chronic musculoskeletal pain, degenerative joint disease, frequent injuries, and spinal deformities may limit mobility. Severe spinal deformities may affect breathing. In the case of extreme joint instability, dislocations may result from simple tasks such as rolling over in bed or turning a doorknob. Secondary conditions such as autonomic dysfunction or cardiovascular problems, occurring in any type, can affect prognosis and quality of life. Severe mobility-related disability is seen more often in Hypermobility-type than in Classical-type or Vascular-type.

Although all types are potentially life-threatening, the majority of individuals will have a normal lifespan. However, those with blood vessel fragility have a high risk of fatal complications. Arterial rupture is the most common cause of sudden death in EDS. Spontaneous arterial rupture most often occurs in the second or third decade, but can occur at any time. The median life-expectancy in the population with Vascular EDS is 48 years.

Diagnosis can be established using plain film x-rays as well as CT scan of the neck/cervical spine. Children with Down's syndrome have inherently lax ligaments making them susceptible to this condition. In select cases, these children may require pre-operative imaging to assess the risk for complications after procedures such as adenoidectomy.

There is no specific test for this condition. Diagnosis is based on signs and symptoms, and exclusion of other conditions.

X-rays of the hip may suggest and/or verify the diagnosis. X-rays usually demonstrate a flattened, and later fragmented, femoral head. A bone scan or MRI may be useful in making the diagnosis in those cases where X-rays are inconclusive. Usually, plain radiographic changes are delayed 6 weeks or more from clinical onset, so bone scintigraphy and MRI are done for early diagnosis. MRI results are more accurate, i.e. 97 to 99% against 88 to 93% in plain radiography. If MRI or bone scans are necessary, a positive diagnosis relies upon patchy areas of vascularity to the capital femoral epiphysis (the developing femoral head).

CMC OA is diagnosed based on clinical findings and radiologic imaging.

The classic diagnostic technique is with appropriate X-rays and hip scoring tests. These should be done at an appropriate age, and perhaps repeated at adulthood - if done too young they will not show anything. Since the condition is to a large degree inherited, the hip scores of parents should be professionally checked before buying a pup, and the hip scores of dogs should be checked before relying upon them for breeding. Despite the fact that the condition is inherited, it can occasionally arise even to animals with impeccably hip scored parents.

In diagnosing suspected dysplasia, the x-ray to evaluate the internal state of the joints is usually combined with a study of the animal and how it moves, to confirm whether its quality of life is being affected. Evidence of lameness or abnormal hip or spine use, difficulty or reduced movement when running or navigating steps, are all evidence of a problem. Both aspects have to be taken into account since there can be serious pain with little X-ray evidence.

It is also common to X-ray the spine and legs, as well as the hips, where dysplasia is suspected, since soft tissues can be affected by the extra strain of a dysplastic hip, or there may be other undetected factors such as neurological issues (e.g. nerve damage) involved.

There are several standardized systems for categorising dysplasia, set out by respective reputable bodies (Orthopedic Foundation for Animals/OFA, PennHIP, British Veterinary Association/BVA). Some of these tests require manipulation of the hip joint into standard positions, in order to reveal their condition on an X-ray.

Dupuytren’s disease has a high recurrence rate, especially when a person has so called Dupuytren’s diathesis. The term diathesis relates to certain features of Dupuytren's disease and indicates an aggressive course of disease.

The presence of all new Dupuytren’s diathesis factors increases the risk of recurrent Dupuytren’s disease by 71% compared with a baseline risk of 23% in people lacking the factors. In another study the prognostic value of diathesis was evaluated. They concluded that presence of diathesis can predict recurrence and extension. A scoring system was made to evaluate the risk of recurrence and extension evaluating the following values: bilateral hand involvement, little finger surgery, early onset of disease, plantar fibrosis, knuckle pads and radial side involvement.

Minimally invasive therapies may precede higher recurrence rates. Recurrence lacks a consensus definition. Furthermore, different standards and measurements follow from the various definitions.

The following conditions can give symptoms very similar to hip dysplasia, and should be ruled out during diagnosis:

- Cauda equina syndrome (i.e. lower back problems)

- Cranial (anterior) cruciate ligament tears

- Other rear limb arthritic conditions

- Osteochondritis dissecans and elbow dysplasia in the forelimbs are difficult to diagnose as the animal may only exhibit an unusual gait, and may be masked by, or misdiagnosed as, hip dysplasia.

A dog may misuse its rear legs, or adapt its gait, to compensate for pain in the "forelimbs", notably osteoarthritis, osteochondritis (OCD) or shoulder or elbow dysplasia, as well as pain in the hocks and stifles or spinal issues. It is important to rule out other joint and bodily issues before concluding that only hip dysplasia is present. Even if some hip dysplasia is present, it is possible for other conditions to co-exist or be masked by it.

Children younger than 6 have the best prognosis, since they have time for the dead bone to revascularize and remodel, with a good chance that the femoral head will recover and remain spherical after resolution of the disease. Children who have been diagnosed with Perthes' disease after the age of 10 are at a very high risk of developing osteoarthritis and coxa magna. When an LCP disease diagnosis occurs after age 8, a better outcome results with surgery rather than nonoperative treatments. Shape of femoral head at the time when Legg-Calve Perthes disease heals is the most important determinant of risk for degenerative arthritis; hence, the shape of femoral head and congruence of hip are most useful outcome measures.

Treatment includes anti-inflammatory medications and immobilization of the neck in addition to treatment of the offending infectious cause (if any) with appropriate antibiotics. Early treatment is crucial to prevent long-term sequelae. Surgical fusion may be required for residual instability of the joint.

Once established, periods of remissions and relapse can persist indefinitely.

While IH may remit spontaneously for most people the condition is long-lasting. Treatments as described above can be effective in reducing the frequency and degree of effusions. Deformative changes to joints are not a common feature of this mostly non-inflammatory condition.

Treatment is frequently by means of removal of the loose bodies and of a partial or full synovectomy (removal of the synovium)

Full synovectomy is a moderately major operation and involves completely exposing the joint and removing the affected tissue. Partial synovectomy is normally done arthroscopically. Synovectomies are normally carried out by shaving the lining of the knee but there are other ways of achieving this by either freezing the synovium or by the use of radiation treatment.

The need for further procedures is greater than 25% although normally the frequency of the required removal of loose bodies is reduced by the previous synovectomy. There have been documented cases of malignant transformation however this is rare.

Whilst the condition can be described as a ‘benign growth’ it seldom affects more than one joint, and does not usually affect surrounding tissue.

Two elements are considered: radiology and joint fluid analysis.

Radiology has a large role to play in finding chondrocalcinosis, with radiographs, CT scans, MRIs, US, and nuclear medicine all having a part. CT scans and MRIs show calcific masses (usually within the ligamentum flavum or joint capsule), however radiography is more successful. At ultrasound, chondrocalcinosis may be depicted as echogenic foci with no acoustic shadow within the hyaline cartilage. As with most conditions, CPPD can present with similarity to other diseases such as ankylosing spondylitis and gout.

Arthrocentesis, or removing synovial fluid from the affected joint, is performed to test the synovial fluid for the calcium pyrophosphate crystals that are present in CPPD. When stained with H&E stain, calcium pyrophosphate crystals appears deeply blue ("basophilic"). However, CPP crystals are much better known for their rhomboid shape and weak positive birefringence on polarized light microscopy, and this method remains the most reliable method of identifying the crystals under the microscope. However, even this method suffers from poor sensitivity, specificity, and inter-operator agreement.

These two modalities currently define CPPD disease but lack diagnostic accuracy, and are potentially epiphenomenological.

Treatment of KBD is palliative. Surgical corrections have been made with success by Chinese and Russian orthopedists. By the end of 1992, Médecins Sans Frontières—Belgium started a physical therapy programme aiming at alleviating the symptoms of KBD patients with advanced joint impairment and pain (mainly adults), in Nyemo county, Lhasa prefecture. Physical therapy had significant effects on joint mobility and joint pain in KBD patients. Later on (1994–1996), the programme has been extended to several other counties and prefectures in Tibet.

Kashin–Beck disease occurrence is limited to 13 provinces and two autonomous regions of China. It has also been reported in Siberia and North Korea, but incidence in these regions is reported to have decreased with socio-economic development. In China, KBD is estimated to affect some 2 million to 3 million people across China, and 30 million are living in endemic areas. Life expectancy in KBD regions has been reported to be significantly decreased in relation to selenium deficiency and Keshan disease (endemic juvenile dilative cardiomyopathia).

The prevalence of KBD in Tibet varies strongly according to valleys and villages.

Prevalence of clinical symptoms suggestive of KBD reaches 100% in 5- to 15-year-old children in at least one village. Prevalence rates of over 50% are not uncommon. A clinical prevalence survey carried out in Lhasa prefecture yielded a figure of 11.4% for a study population of approximately 50,000 inhabitants. As in other regions of China, farmers are by far the most affected population group.

Osteoarthritis between the radius bone and the carpals is indicated by a "radiocarpal joint space" of less than 2mm.

X-rays can be very helpful in diagnosing and differentiating between SNAC and SLAC wrists. On the other hand, X-rays are not always sufficient to distinguish between different stages. It is important to note that both hands need to be compared. Therefore, two X-rays are needed: one from the left and one from the right hand. When the X-ray is inconclusive, wrist arthroscopy can be performed.

SLAC

Because the scapholunate ligament is ruptured, the scaphoid and lunate are not longer connected. This results in a larger space between the two bones, also known as the Terry Thomas sign. A space larger than 3 mm is suspicious and a space larger than 5 mm is a proven SLAC pathology. Scaphoid instability due to the ligament rupture can be stactic or dynamic. When the X-ray is diagnostic and there is a convincing Terry Thomas sign it is a static scaphoid instability. When the scaphoid is made unstable by either the patient or by manipulation by the examining physician it is a dynamic instability.

In order to diagnose a SLAC wrist you need a posterior anterior (PA) view X-ray, a lateral view X-ray and a fist view X-ray. The fist X-ray is often made if there is no convincing Terry Thomas sign. A fist X-ray of a scapholunate ligament rupture will show a descending capitate. Making a fist will give pressure at the capitate, which will descend if there is a rupture in the scapholunate ligament.

SNAC

In order to diagnose a SNAC wrist you need a PA view X-ray and a lateral view X-ray. As in SLAC, the lateral view X-ray is performed to see if there is a DISI.

Computed tomography (CT) or Magnetic Resonance Imaging (MRI) are rarely used to diagnose SNAC or SLAC wrist osteoarthritis because there is no additional value. Also, these techniques are much more expensive than a standard X-ray. CT or MRI may be used if there is a strong suspicion for another underlying pathology or disease.

Outcomes vary depending on the location of the disease, the degree of damage to the joint, and whether surgical repair was necessary. Average healing times vary from 55–97 days depending on location. Up to 1–2 years may be required for complete healing.

The diagnosis is clinical, not based upon serology. At least seven sets of diagnostic criteria have been devised, however the Yamaguchi criteria have the highest sensitivity. Diagnosis requires at least five features, with at least two of these being major diagnostic criteria.

Radiation therapy has been used mostly for early stage disease, but is unproven. Evidence to support its use as of 2017, however, is poor; efforts to gather evidence are complicated due to a poor understanding of the how the condition develops over time. It has only been looked at in early disease.

There are no set standards for the diagnosis of suspected transient synovitis, so the amount of investigations will depend on the need to exclude other, more serious diseases.

Inflammatory parameters in the blood may be slightly raised (these include erythrocyte sedimentation rate, C-reactive protein and white blood cell count), but raised inflammatory markers are strong predictors of other more serious conditions such as septic arthritis.

X-ray imaging of the hip is most often unremarkable. Subtle radiographic signs include an accentuated pericapsular shadow, widening of the medial joint space, lateral displacement of the femoral epiphyses with surface flattening (Waldenström sign), prominent obturator shadow, diminution of soft tissue planes around the hip joint or slight demineralisation of the proximal femur. The main reason for radiographic examination is to exclude bony lesions such as occult fractures, slipped upper femoral epiphysis or bone tumours (such as osteoid osteoma). An anteroposterior and frog lateral (Lauenstein) view of the pelvis and both hips is advisable.

An ultrasound scan of the hip can easily demonstrate fluid inside the joint capsule (Fabella sign), although this is not always present in transient synovitis. However, it cannot reliably distinguish between septic arthritis and transient synovitis. If septic arthritis needs to be ruled out, needle aspiration of the fluid can be performed under ultrasound guidance. In transient synovitis, the joint fluid will be clear. In septic arthritis, there will be pus in the joint, which can be sent for bacterial culture and antibiotic sensitivity testing.

More advanced imaging techniques can be used if the clinical picture is unclear; the exact role of different imaging modalities remains uncertain. Some studies have demonstrated findings on magnetic resonance imaging (MRI scan) that can differentiate between septic arthritis and transient synovitis (for example, signal intensity of adjacent bone marrow). Skeletal scintigraphy can be entirely normal in transient synovitis, and scintigraphic findings do not distinguish transient synovitis from other joint conditions in children. CT scanning does not appear helpful.