Patients usually complain of pain in one joint, which persists for months, or even years, does not ease with exercise, steroid injection or heat treatment, shows nothing on X-ray, but shows a definite restriction of movement.

There are 3 defined stages to this disease:

- early: no loose bodies but active synovial disease;

- transitional: active synovial disease, and loose bodies;

- late: loose bodies but no synovial disease;

In the early stages of the disease it is often confused with tendinitis and/or arthritis. Once it reaches transitional the loose bodies become apparent with X-ray in greater than 70% of cases, with MRI often showing where xray fails. In experienced hands, US is also useful for the diagnosis.

In the disease, the thin flexible membrane of the synovium gradually forms blisters which calcify and enlarge. These nodules eventually break free and float around the joint space becoming larger – these add to the discomfort and stiffness of the joint.

The disease is rare and little known and there is currently no known cure. The affected tissue will show up as a semi-solid mass in a MRI scan, final diagnosis is usually confirmed by taking a biopsy.

Synovial chondromatosis occurs twice as commonly in males as females and usually in their forties. However, online communities for synovial chondromatosis patients have yielded a stark contrast, with equal representation from both genders and members diagnosed as young as late teenage/early 20s.

The disease generally affects only one of the larger weight bearing joints (hip, ankle, knee) – although the elbow, and wrist can also be affected. Rarely involves the temporal mandibular joint.

Synovial chondromatosis (synonyms include synovial osteochondromatosis, primary synovial osteochondromatosis, and synovial chondrometaplasia) is a disease affecting the synovium, a thin flexible membrane around a joint. It is also known as Reichel's syndrome or Reichel-Jones-Henderson syndrome, named after Friedrich Paul Reichel, Hugh Toland Jones and Melvin Starkey Henderson.

There may or may not be any evidence of history of HGF in the family nor any usage of taking long-term medicines for any particular disease when it comes to diagnosing HGF. There also may or may not be any signs of medical and/or family history of mental retardation, hypertrichosis, nor clinical symptoms that can be associated with gingival enlargement. Although, enlargement of gingiva, interdental papilla, hindered speech, and secondary inflammatory changes taking place in the mouth commonly at the marginal gingiva are all very indicative of this condition. Commonly the patient will have mandiblular and maxilliary inflammation and overgrowth as opposed to the traditional pink, firm, and fleshy consistency of healthy gingiva. The patient's jaw may also appear distorted because of the gingiva englargements. Overgrowth of the gingiva can range from slightly covering the surface of teeth or it can even completely cover the surrounding teeth. The patient can also experience damage or loss of teeth.

Osgood–Schlatter disease causes pain in the front lower part of the knee. This is usually at the ligament-bone junction of the patellar ligament and the tibial tuberosity. The tibial tuberosity is a slight elevation of bone on the anterior and proximal portion of the tibia. The patellar tendon attaches the anterior quadriceps muscles to the tibia via the knee cap.

Intense knee pain is usually the presenting symptom that occurs during activities such as running, jumping, squatting, and especially ascending or descending stairs and during kneeling. The pain is worse with acute knee impact. The pain can be reproduced by extending the knee against resistance, stressing the quadriceps, or striking the knee. Pain is initially mild and intermittent. In the acute phase, the pain is severe and continuous in nature. Impact of the affected area can be very painful. Bilateral symptoms are observed in 20–30% of people.

Osgood–Schlatter disease (OSD), also known as apophysitis of the tibial tubercle, is inflammation of the patellar ligament at the tibial tuberosity. It is characterized by a painful bump just below the knee that is worse with activity and better with rest. Episodes of pain typically last a few months. One or both knees may be affected and flares may recur.

Risk factors include overuse, especially sports which involve running or jumping. The underlying mechanism is repeated tension on the growth plate of the upper tibia. Diagnosis is typically based on the symptoms. A plain X-ray may be either normal or show fragmentation in the attachment area.

Pain typically resolves with time. Applying cold to the affected area, stretching, and strengthening exercises may help. NSAIDs such as ibuprofen may be used. Slightly less stressful activity may be recommended.

About 4% of people are affected at some point in time. Males between the ages of 10 and 15 are most often affected. After growth slows, typically age 16 in boys and 14 in girls, the pain will no longer occur despite a bump potentially remaining. The condition is named after Robert Bayley Osgood (1873–1956), an American orthopedic surgeon and Carl B. Schlatter, (1864–1934), a Swiss surgeon who described the condition independently in 1903.

Hereditary gingival fibromatosis (HGF), also known as idiopathic gingival hyperplasia, is a rare condition of gingival overgrowth. HGF is characterized as a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of keratinized gingiva. It can cover teeth in various degrees, and can lead to aesthetic disfigurement. Fibrous enlargement is most common in areas of maxillary and mandibular tissues of both arches in the mouth. Phenotype and genotype frequency of HGF is 1:175,000 where males and females are equally affected but the cause is not entirely known. It mainly exists as an isolated abnormality but can also be associated with a multi-system syndrome.

The appearance of people with the disorder is caused by a loss of bone in the mandible which the body replaces with excessive amounts of fibrous tissue. In most cases, the condition fades as the child grows, but in a few even rarer cases the condition continues to deform the affected person's face. Cherubism also causes premature loss of the primary teeth and uneruption of the permanent teeth.

The condition Cherubism is a rare autosomal dominant disease of the maxilla and mandible. Approximately 200 cases have been reported by medical journals with the majority being males. Cherubism is usually first diagnosed around age 7 and continues through puberty and may or may not continue to advance with age. The degrees of Cherubism vary from mild to severe. Osteoclastic and osteoblastic remodeling contributes to the change of normal bone to fibrous tissue and cyst formation. As noted by the name, the patient's face becomes enlarged and disproportionate due to the fibrous tissue and atypical bone formation. The sponge-like bone formations lead to early tooth loss and permanent tooth eruption problems. The condition also affects the orbital area, creating an upturned eye appearance. The cause of cherubism is believed to be traced to a genetic defect resulting from a mutation of the SH3BP2 gene from chromosome 4p16.3. While the condition is rare and painless, the afflicted suffer the emotional trauma of disfigurement. The effects of Cherubism may also interfere with normal jaw motion and speech. Currently, removal of the tissue and bone by surgery is the only treatment available. This condition is also one of the few that unexpectedly stops and regresses. Normal bone remodeling activity may resume after puberty.

Cherubism is displayed with genetic conformation and when excessive osteoclasts are found in the affected areas of the mandible and maxilla. Large cysts will be present with excessive fibrous areas inside the bone. The fibers and cysts will be found among the trabecula of the Coronoid process, the ramus of mandible, the body of mandible and the maxilla regions. The maxilla will be affected up to and including the orbits and sometimes inside the lower orbits. The maxilla and zygomatic bones are depressed and eyes appear to gaze upward. The maxilla has been found to be more severely affected in most cases than the mandible bone. Some patients found with lower inner orbital growths and cysts may lose vision.

Camptodactyly is a medical condition that causes one or more fingers to be permanently bent. It involves fixed flexion deformity of the proximal interphalangeal joints. The fifth finger is always affected.

Camptodactyly can be caused by a genetic disorder. In that case, it is an autosomal dominant trait that is known for its incomplete genetic expressivity. This means that when a person has the genes for it, the condition may appear in both hands, one, or neither. A linkage scan proposed that the chromosomal locus of camptodactyly was 3q11.2-q13.12.

Schnitzler syndrome is a rare disease characterised by chronic hives (urticaria) and periodic fever, bone pain and joint pain (sometimes with joint inflammation), weight loss, malaise, fatigue, swollen lymph glands and enlarged spleen and liver.

The urticarial rash is non-itching in more than half of cases, which is unusual for hives. It is most prominent on the trunk, arms and legs, sparing the palms, soles, head and neck. Associated angioedema has been reported in a few patients. A review of 94 cases found a mean age at onset of 51 years, and only four patients developed symptoms before the age of 35. The cause and disease mechanism of Schnitzler syndrome remain largely unknown.

Schnitzler syndrome is considered an autoinflammatory and autoimmune disorder. Chronic hives and a monoclonal gammopathy have been proposed as the major criteria, while the others represent minor criteria.

People with monoclonal gammopathy generally do not experience signs or symptoms. Some people may experience a rash or nerve problems, such as numbness or tingling. Severe renal disease has also been found in a subset of those with monoclonal gammopathy. MGUS is usually detected by chance when the patient has a blood test for another condition or as part of standard screening.

The name is derived from the ancient Greek words "kamptos" ("bent") and "daktylos" ("finger").

The syndrome is a rare clinical disorder.

- Physical

- Overgrowth

- Accelerated skeletal maturation

- Dysmorphic facial features

- Prominent eyes

- Bluish sclerae

- Coarse eyebrows

- Upturned nose

- Radiologic examination

- Accelerated osseous maturation

- Phalangeal abnormalities

- Tubular thinning of the long bones

- Skull abnormalities

- Mental

- Often associated with intellectual disability (of variable degree)

Blood tests show a high concentration of specific gamma-globulins (monoclonal gammopathy) of the IgM type. It almost always has light chains of the κ-type. A variant in which IgG is raised has been described, which appears to be ten times as rare. The immunoglobulins may show up in the urine as Bence Jones proteins. Signs of inflammation are often present: these include an increased white blood cell count (leukocytosis) and a raised erythrocyte sedimentation rate and C-reactive protein. There can be anemia of chronic disease. Bone abnormalities can be seen on radiological imaging (often increased density or osteosclerosis) or biopsy.

Because it is such a rare condition (as of September 2014, only 281 cases have been reported), it is important to rule out other conditions which can cause periodic fevers, paraproteins or chronic hives. These include (and are not limited to) autoimmune or autoinflammatory disorders such as adult-onset Still's disease, angioedema, hematological disorders such as lymphoma or monoclonal gammopathy of undetermined significance, other causes of hives, cryoglobulinemia, mastocytosis, chronic neonatal onset multisystem inflammatory disease or Muckle–Wells syndrome.

It is however possible to have more than one rare condition as seen by a patient with Schnitzler's syndrome and cold induced urticaria.

A meeting of experts, including Dr Liliane Schnitzler (then retired) took place in Strasbourg in May 2012 and drew up diagnostic criteria known as the "Strasbourg Criteria". These included two obligate criteria (chronic urticarial rash and monoclonal IgM or IgG) and several minor criteria; a definite diagnosis requires the two obligate criteria and two minor criteria if IgM, three if IgG; a probable diagnosis requires the two obligate criteria and one (IgM) or two (IgG) minor criteria.

Cherubism is a rare genetic disorder that causes prominence in the lower portion in the face. The name is derived from the temporary chubby-cheeked resemblance to putti, often confused with cherubs, in Renaissance paintings.

AL amyloidosis can occur spontaneously. It is, however, often associated with other blood disorders, such as multiple myeloma and Waldenström's macroglobulinemia. About 10% to 15% of patients with multiple myeloma may develop overt AL amyloidosis.

AL amyloidosis can affect a wide range of organs, and consequently present with a range of symptoms. The kidneys are the most commonly affected organ in AL amyloidosis. Symptoms of kidney disease and renal failure can include fluid retention, swelling, and shortness of breath.

In addition to kidneys, AL amyloidosis may affect the heart, peripheral nervous system, gastrointestinal tract, blood, lungs and skin. Heart complications, which affect more than a third of AL patients, include heart failure and irregular heart beat. Other symptoms can include stroke, gastrointestinal disorders, enlarged liver, diminished spleen function, diminished function of the adrenal and other endocrine glands, skin color change or growths, lung problems, bleeding and bruising problems, fatigue and weight loss.

Symptoms of an ankle fracture can be similar to those of ankle sprains (pain), though typically they are often more severe by comparison. It is exceedingly rare for the ankle joint to dislocate in the presence of ligamentous injury alone. However, in the setting of an ankle fracture the talus can become unstable and subluxate or dislocate. Patients may complain of ecchymosis (bruising), or there may be an abnormal position, abnormal motion, or lack of motion.

The onset is not dramatic. When the boot or shoes are taken off, there is a cramp-like pain in the affected forefoot, and moderate local edema appears on the dorsal aspect. On moving each toe in turn, that of the involved metatarsal causes pain, and when the bone is palpated from the dorsal surface, a point of tenderness is found directly over the lesion. Radiography at this stage is negative, but the condition is diagnosed correctly by military surgeons without the aid of x-rays. In civil life, it is seldom diagnosed correctly for a week or two, when, because of lack of immobilization, there is an excessive deposit of callus (which may be palpable) around the fracture.

A person with a Jones fracture may not realize that a fracture has occurred. Diagnosis includes the palpation of an intact peroneus brevis tendon, and demonstration of local tenderness distal to the tuberosity of the fifth metatarsal, and localized over the diaphysis of the proximal metatarsal. Bony crepitus is unusual.

This injury should be differentiated from the developmental apophysis (5th metatarsal tuberosity) commonly and normally occurring at this site in adolescents. Differentiation is possible by characteristics such as absence of sclerosis of the fractured edges (in acute cases) and orientation of the lucent line: transverse (at 90 degrees) to the metatarsal axis for the fracture (due to avulsion pull by the peroneus brevis muscle inserting at the proximal tip) - and parallel to the metatarsal axis in the case of the apophysis. Diagnostic x-rays include anteroposterior, oblique, and lateral views and should be made with the foot in full flexion.

The rings are barely raised and are non-itchy. The face is generally spared.

Other proximal fifth metatarsal fractures exist, although they are not as severe as a Jones fracture. If the fracture enters the intermetatarsal joint, it is a Jones fracture. If, however, it enters the tarsometatarsal joint, then it is an avulsion fracture caused by pull from the peroneus brevis. An avulsion fracture is sometimes called a Pseudo-Jones fracture or a Dancer's fracture.

Respiratory complications are often cause of death in early infancy.

Erythema marginatum is a type of erythema (redness of the skin or mucous membranes) involving pink rings on the torso and inner surfaces of the limbs which come and go for as long as several months. It is found primarily on extensor surfaces.

An association with bradykinin has been proposed in the case of hereditary angioedema.

An ankle fracture is a break of the ankle bones. It is typically diagnosed by X-ray. Treatment is with splinting, casting or surgery. In children ankle fractures occur in about 1 per 1000 per year.

March fracture, also known as fatigue fracture or stress fracture of metatarsal bone, is the fracture of the distal third of one of the metatarsals occurring because of recurrent stress. It is more common in soldiers, but also occurs in hikers, organists, and even those, like hospital doctors, whose duties entail much standing. March fractures most commonly occur in the second and third metatarsal bones of the foot. It is a common cause of foot pain, especially when people suddenly increase their activities.