A genetic disorder is a genetic problem caused by one or more abnormalities formed in the genome. Most genetic disorders are quite rare and affect one person in every several thousands or millions. The earliest known genetic condition in a hominid was in the fossil species Paranthropus robustus, with over a third of individuals displaying Amelogenesis imperfecta.
Osteophytes are exostoses that form along joint margins. They should not be confused with enthesophytes, which are bony projections that form at the attachment of a tendon or ligament. Osteophytes are not always distinguished from exostoses in any definite way, although in many cases there are a number of differences. Osteophytes are typically intra-articular.
An exostosis, also known as bone spur, is the formation of new bone on the surface of a bone. Exostoses can cause chronic pain ranging from mild to debilitatingly severe, depending on the shape, size, and location of the lesion. It is most commonly found in places like the ribs, where small bone growths form, but sometimes larger growths can grow on places like the ankles, knees, shoulders, elbows and hips. Very rarely are they on the skull.
Osteochondromas 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 about the knee and in the forearm. Additionally, flat bones such as the pelvis and scapula may be affected. Hereditary multiple exostoses usually present during childhood. Yet, the vast majority of affected individuals become clinically manifest by the time they reach adolescence. Osteochondromas occur in 3% of the general population and represent 35% of all benign tumors and 8% of all bone tumors. The majority of these tumors are solitary non-hereditary lesions and approximately 15% of osteochondromas occur as hereditary multiple exostoses preferably known as hereditary multiple osteochondromas (HMOs). 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. In hereditary multiple exostoses the indications of surgery are based upon multiple factors that are taken collectively, namely: patient's age, tumor location and number, accompanying symptomatology, esthetic concerns, family history and underlying gene mutation. A variety of surgical procedures have been employed to remedy hereditary multiple exostoses such as osteochondroma excision, bone lengthening, corrective osteotomy and hemiepiphysiodesis. Sometimes a combination of the previous procedures is used. The indicators of surgical success in regard to disease and patient characteristics are greatly disputable. Because most studies of hereditary multiple exostoses are retrospective and of limited sample size with missing data, the best evidence for each of the currently practiced surgical procedures is lacking.
Synostosis is fusion of two bones. It can be normal in puberty, fusion of the epiphysis, or abnormal. When synostosis is abnormal it is a type of dysostosis.
Osteochondromatosis is a condition involving a proliferation of osteochondromas.
A buccal exostosis is an exostosis on the buccal surface of the alveolar ridge of the maxilla or mandible. More commonly seen in the maxilla than the mandible, buccal exostoses are considered to be site specific. Existing as asymptomatic bony nodules, buccal exostoses don’t usually present until adult life, and some consider buccal exostoses to be a variation of normal anatomy rather than disease. Bone is thought to become hyperplastic, consisting of mature cortical and trabecular bone with a smooth outer surface. They are less common when compared with mandibular tori.
Bone disease refers to the medical conditions which affect the bone.
The gastrin-releasing peptide receptor (GRPR), now properly known as BB2 is a G protein-coupled receptor whose endogenous ligand is gastrin releasing peptide. In humans it is highly expressed in the pancreas and is also expressed in the stomach, adrenal cortex and brain.
Zinc finger transcription factor Trps1 is a protein that in humans is encoded by the TRPS1 gene.
Exostosin-1 is a protein that in humans is encoded by the EXT1 gene.
Exostosin-2 is a protein that in humans is encoded by the EXT2 gene.
Heat shock protein 75 kDa, mitochondrial is a protein that in humans is encoded by the TRAP1 gene.
Exostosin-like 3 is a protein that in humans is encoded by the EXTL3 gene.
Exostosin-like 1 is a protein that in humans is encoded by the EXTL1 gene.
Exostosin-like 2 is a protein that in humans is encoded by the EXTL2 gene.
