Osteochondromatosis is a condition involving a proliferation of osteochondromas.

Types include:

- Hereditary multiple exostoses

- Synovial osteochondromatosis

HME can cause pain to people of all ages. To children, this can be especially painful. During exercise, it can cause a significant amount of pain. Exostoses may be visible to naked eye from outside. Multiple deformities, as mentioned above, can be present. The Exotoses appear to slow their rate of growth when they reach a certain, variable mass.

Limited normal functions and movements are caused by osteochondromas growing slowly and inwardly. The majority of osteochondromas are symptomless and are found incidentally. Each individual with osteochondroma may experience symptoms differently and most of the time individuals will experience no symptoms at all. Some of the most common symptoms are a hard immobile painless palpable mass, adjacent muscle soreness, and pressure or irritation with heavy exercising.

Major symptoms arise when complications such as fractures, bone deformity or mechanical joint problems occur. If the occurrence of an osteochondroma is near a nerve or a blood vessel, the affected limb can experience numbness, weakness, loss of pulse or color change. Periodic changes in the blood flow can also take place. Approximately 20% of patients experiencing nerve compression commonly acknowledge vascular compression, arterial thrombosis, aneurysm, and pseudoaneurysm. Formation of pseudoaneurysm and venous thrombosis lead to claudication, pain, acute ischemia, and symptoms of phlebitis. If the tumor is found under a tendon, it can cause pain during movement causing restriction of joint motion. Pain can also occur due to bursal inflammation, swelling or fracture at the base of the tumor stalk. Some of the clinical signs and symptoms of malignant osteochondroma are pain, swelling, and mass enlargement.

It is characterized by the growth of cartilage-capped benign bone tumours around areas of active bone growth, particularly the metaphysis of the long bones. Typically five or six exostoses are found in upper and lower limbs. Most common locations are:

- Distal femur (70%)

- Proximal tibia (70%)

- Humerus (50%)

- Proximal fibula (30%)

HME can lead to the shortening and bowing of bones; affected individuals often have a short stature. Depending on their location the exostoses can cause the following problems: pain or numbness from nerve compression, vascular compromise, inequality of limb length, irritation of tendon and muscle, Madelung's deformity as well as a limited range of motion at the joints upon which they encroach. A person with HME has an increased risk of developing a rare form of bone cancer called chondrosarcoma as an adult. Problems may be had in later life and these could include weak bones and nerve damage. The reported rate of transformation ranges from as low as 0.57% to as high as 8.3% of people with HME.

Osteochondromas or osteocartilaginous exostoses are the most common benign tumors of the bones.

The tumors take the form of cartilage-capped bony projections or outgrowth on the surface of bones (exostoses). It is characterized as a type of overgrowth that can occur in any bone where cartilage forms bone. Tumors most commonly affect long bones in the leg, pelvis, or scapula (shoulder blade). Development of osteochondromas take place during skeletal growth between the ages of 13 and 15 and ceases when the growth plate fuses at puberty. They arise within the first three decades of life affecting children and adolescents.

Osteochondromas occur in 3% of the general population and represent 35% of all benign tumors and 8% of all bone tumors. Majority of these tumors are solitary non-hereditary lesions and approximately 15% of osteochondromas occur as hereditary multiple osteochondromas (HMOs). They can occur as a solitary lesion (solitary osteochondroma) or multiple lesions within the context of the same bone (Multiple Osteochondroma). Osteochondromas do not result from injury and the exact cause remains unknown. Recent research has indicated that multiple osteochondromas is an autosomal dominant inherited disease. Germ line Mutations in "EXT1" and "EXT2" genes located on chromosomes 8 and 11 have been associated with the cause of the disease.

The treatment choice for osteochondroma is surgical removal of solitary lesion or partial excision of the outgrowth, when symptoms cause motion limitations or nerve and blood vessel impingements.

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.

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.

A cancer syndrome or family cancer syndrome is a genetic disorder in which inherited genetic mutations in one or more genes predispose the affected individuals to the development of cancers and may also cause the early onset of these cancers. Cancer syndromes often show not only a high lifetime risk of developing cancer, but also the development of multiple independent primary tumors. Many of these syndromes are caused by mutations in tumor suppressor genes, genes that are involved in protecting the cell from turning cancerous. Other genes that may be affected are DNA repair genes, oncogenes and genes involved in the production of blood vessels (angiogenesis). Common examples of inherited cancer syndromes are hereditary breast-ovarian cancer syndrome and hereditary non-polyposis colon cancer (Lynch syndrome).

Hereditary cancer syndromes underlie 5 to 10% of all cancers. Scientific understanding of cancer susceptibility syndromes is actively expanding: additional syndromes are being found, the underlying biology is becoming clearer, and commercialization of diagnostic genetics methodology is improving clinical access. Given the prevalence of breast and colon cancer, the most widely recognized syndromes include hereditary breast-ovarian cancer syndrome (HBOC) and hereditary non-polyposis colon cancer (HNPCC, Lynch syndrome).

Some rare cancers are strongly associated with hereditary cancer predisposition syndromes. Genetic testing should be considered with adrenocortical carcinoma; carcinoid tumors; diffuse gastric cancer; fallopian tube/primary peritoneal cancer; leiomyosarcoma; medullary thyroid cancer; paraganglioma/pheochromocytoma; renal cell carcinoma of chromophobe, hybrid oncocytic, or oncocytoma histology; sebaceous carcinoma; and sex cord tumors with annular tubules. Primary care physicians can identify people who are at risk of heridatary cancer syndrome.