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Diseases » Fractures » Glossary
 

Glossary for Fractures

  • Accidental injury: An injury that occurs accidentally
  • Acid phosphatase deficiency: A group of inherited metabolic bone disorders varying in degree of severity and characterized a deficiency of alkaline phosphate which affects bone mineralization.
  • Acid-Base Imbalance: A disruption to the normal acid-base equilibrium in the body. There are four main groups of disorder involving an acid-base imbalance: respiratory acidosis or alkalosis and metabolic acidosis or alkalosis. Obviously the severity of symptoms is determined by the degree of imbalance.
  • Acroosteolysis dominant type: A rare inherited connective tissue disorder characterized by breakdown of bone especially in the ends of the fingers and toes.
  • Adrenal Cortex Diseases: Diseases of the adrenal cortex. Examples includes Addison's disease, Cushing's syndrome and adrenal fatigue.
  • Aggressive systemic mastocytosis: The excessive proliferation of mast cells. Mast cells control the skin's response to minor injury and release a chemical called histamine which causes the skin to redden. In the aggressive form, mast cells accumulate in the liver, spleen and lymphatic system.
  • Albers-Schonberg disease -- Adult benign dominant form: A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. The adult benign form is associated with a normal life expectancy and is often asymptomatic.
  • Albers-Schonberg disease -- intermediate form: A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. The intermediate form is more severe than the adult form but less severe than the infantile form. Life expectancy is usually normal.
  • Albers-Schonberg disease -- malignant recessive form: A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. The malignant infantile form is the most severe form of this disorder and death usually occurs in the first decade of life.
  • Aluminium toxicity: High body levels of aluminium resulting in symptoms. Usually occurs in patients with renal impairment.
  • Ankle fracture: Fracture of bones in the ankle.
  • Arm fracture: Fracture of bones in the arm.
  • Automobile accidents injury: An injury caused by the mechanism of a car accident
  • Avascular necrosis: Bone death from lack of circulation.
  • Back tumour: The presence of tumour growth in the vertebra, whether due to primary malignancies e.g. leukaemic or myeloma infiltration of the bone marrow, or due to secondary metastases from another site e.g. lung or breast.
  • Ballard syndrome: A rare condition characterized by enlarged liver and spleen and fractures that occur in areas of weakened bone.
  • Bleeding symptoms: Any type of bleeding symptoms.
  • Blood cancer: Malignancy of one or several of the different types of cells in the blood
  • Bone cancer: Malignancy that occurs in the bone
  • Bone conditions: Conditions that affect the bones
  • Bone dysplasia Azouz type: A rare disorder involving abnormal bone development characterized by a flattened spine and abnormal benign cartilage growths whitin bones which affects it's growth and strength.
  • Bone dysplasia with medullary fibrosarcoma: A rare inherited bone disorder characterized by aggressive bone tumors and defective bone development. The tumors metastasized readily.
  • Bone fragility, craniosynostosis, proptosis, hydrocephalus: A very rare genetic disorder characterized by fragile bones, premature closure of skull bones, protruding eyeballs and fluid buildup in the skull.
  • Bone pain: Bone pain or tenderness is aching or other discomfort in one or more bones.
  • Brittle bone syndrome lethal type: A rare form of brittle bone disease caused by abnormal collagen production which results in weak bones which break easily. The condition can result in death, especially during the process of birth which can result in multiple severe fractures.
  • Bruck syndrome: A very rare syndrome characterized primarily by weak, brittle bones and abnormal knee, ankle and foot joints (congenital contractures) at birth. There are two different subtypes of the disorder, each with a different genetic defect origin.
  • Bruck syndrome 1: A very rare syndrome characterized primarily by weak, brittle bones and abnormal knee, ankle and foot joints (congenital contractures) at birth.
  • Bruck syndrome, 2: A very rare syndrome characterized primarily by limited joint extension (congenital contractures), weak fragile bones and webbed skin at elbows and knees.
  • Brunzell syndrome: A rare recessively inherited syndrome characterized by a lack of skin fat (Seip syndrome), cystic angiomatosis of the long bones which can lead to fractures.
  • Cerebrotendinous Xanthomatosus: A rare syndrome where a genetic mutation results in a metabolic disorders caused by a deficiency of sterol 27-hydroxylase deficiency. The condition causes progressive neurological dysfunction, cataracts and premature atherosclerosis. Deposits of cholesterol and cholestanol can be found in any part of the body including the brain. The rate of progression and severity of symptoms varying amongst patients. The degree of neurological involvement is also variable.
  • Cervical Cancer: Cervical cancer is malignant cancer of the cervix uteri or cervical area
  • Child abuse: Physical, sexual, emotional abuse or neglect of child.
  • Chitty-Hall-Webb syndrome: A very rare syndrome characterized mainly by fractures, bowed shin bones, abnormal forearm bone (radius) and reduced bone mass.
  • Chondroblastoma (benign): A rare benign bone tumor that usually forms in the ends of long bones such as the leg bones.
  • Chronic Kidney Disease: Long-term and generally irreversible disease of the kidneys due to infection, obstruction, congenital diseases or generalised diseases causing failure of the kidneys' normal functions.
  • Circulation symptoms: Symptoms affecting the circulatory system
  • Classical Hodgkin disease: Hodgkin's disease is a type of cancer characterized by the abnormal proliferation of a type of white blood cell called lymphocyte. Hodgkin's lymphoma is classified into classical types and nodular lymphocyte predominant type. The nodular form tends to be more localized than the classical form. Classical Hodgkin's lymphoma is further subdivided into four subgroups depending on the cell composition of the lymphoma: nodular sclerosing, mixed cellularity, lymphocyte rich and lymphocyte depleted.
  • Compartment Syndrome: Excessive bleeding or swelling following surgery or injury can result in increased pressure within a section of the arms, legs or buttocks. The increased pressure affects blood flow and can result in tissue death necessitating amputation, nerve damage or muscle damage. The condition can be chronic or acute which is a medical emergency.
  • Compound fracture: The occurrence of fractured bone the protrudes through the skin
  • Crohn's disease: Crohn's disease causes inflammation of the digestive system. It is one of a group of diseases called inflammatory bowel disease. The disease can affect any area from the mouth to the anus. It often affects the lower part of the small intestine called the ileum.
  • Cushing syndrome, familial: A hormonal disorder caused by high levels of the cortisol hormone due to the abnormal development of the adrenal gland.
  • Cushing's disease: A condition of hyperadrenocorticism which is secondary to excessive pituitary secretion of ACTH. Cushing's disease is different to Cushing's syndrome which refers to the effects of glucocorticoid excess from any cause.
  • Cushing's syndrome: A rare syndrome where excessive secretion of corticosteroids by the adrenal cortex leads to a variety of symptoms. Hormone-secreting adrenal or pituitary tumors are often the cause of the excessive corticosteroid secretion.
  • Death: The cessation of life
  • Deficiency-induced osteoporosis: Bone loss has been linked to minerals, drugs and endocrine disorders and hence the term deficiency induced osteoporosis is a very generalised broad term which links together minerals, drugs and other diseases induced osteoporosis.
  • Dennis-Fairhurst-Moore syndrome: A very rare lethal syndrome characterized mainly by dwarfism, characteristic facial features, small eyes and reduced hair.
  • Dialysis-related amyloidosis: Amyloidosis (protein deposits) from kidney dialysis treatment.
  • Disuse osteoporosis: Disuse osteoporosis is defined as localized or generalized bone loss resulting from reduction of mechanical stress on bones.
  • Drug-induced osteoporosis: Drug induced osteoporosis is both preventable and treatable.
  • Ehlers-Danlos syndrome Type I: A rare genetic connective tissue disorder characterized by hyperextensible joints, hyperextensible skin and poor wound healing.
  • Ehlers-Danlos syndrome, arthrochalasic type: A rare genetic connective tissue disorder characterized by hyperextensible and fragile skin and hypermobile joints which leads to dislocations, osteoarthritis and fractures - previously known as EDS types 7A and 7B.
  • Electrical burns: Burns caused when an electric current pass through the body or part of it. The symptoms and severity of the burn depends on the strength of the electrical current, the duration of the exposure and the part of the body involved. Prompt treatment in more severe cases can improve the prognosis.
  • Embolism: Blockage of an artery or blood vessel
  • Enchondromatosis-dwarfism-deafness: A rare syndrome characterized mainly by short limbs, short stature, asymmetrical limbs, deafness and abnormal bone development.
  • Epidermal nevus -- vitamin D resistant rickets: A rare syndrome characterized mainly by the presence of birth marks on the skin, bone abnormalities and mental retardation.
  • Ewing's family of tumors: A rare condition where tumors develop in bone or soft tissue. Usually teenagers are affected.
  • Face fracture: A fracture of the bones of the face
  • Facial fracture: Fracture of a bone in the face
  • Falls: When a person losses balance and falls over
  • Fanconi renotubular syndrome: A condition where the kidneys are unable to reabsorb glucose and amino acids and hence they are excreted in the urine. The condition may be inherited or occur as a result of heavy metal toxicity, malignancy and myeloma.
  • Fibromatosis multiple non ossifying: A very rare syndrome characterized mainly by bone abnormalities which causes the bones to fracture easily.
  • Fibrous Dysplasia: A rare condition where fibrous tissues develops instead of normal bone tissue. One or more bones may be affected and bones in the legs, head and chest are the usual ones affected.
  • Fibrous dysplasia of bone: A bone development abnormality that can occur in one or more bones. The bone develops tumor-like growths in bones where normal bone is replaced by fibrous tissue. It can occur as a single lesion or in multiples. Malignancy can occur but is rare. Symptoms are determined by the location and extent of the abnormality.
  • Firearm Injury: An injury caused by a firearm
  • Foot fracture: A fracture of one or several bones of the foot
  • Fractured Lower Leg: A fracture to one of the bones of the lower leg
  • Fractured femur: A fracture that occurs in the femur of the leg
  • Fractures: Fracture of a bone; also "broken bone".
  • Gaucher Disease: A rare inherited biochemical disorder characterized by the deficiency of the enzyme called glucocerebrosidase and accumulation of glycosylceramide (glucocerebroside). There are three forms of this disease: type 1, 2 and 3.
  • Gaucher disease type 1: A rare inherited biochemical disorder characterized by the deficiency of the enzyme called glucocerebrosidase and accumulation of glycosylceramide (glucocerebroside). There are three forms of this disease: type 1, 2 and 3. Type 1 is the visceral, chronic form which usually starts during adulthood.
  • Gaucher disease type 2: A rare inherited biochemical disorder characterized by the deficiency of the enzyme called glucocerebrosidase and accumulation of glycosylceramide (glucocerebroside). There are three forms of this disease: type 1, 2 and 3. Type 2 is acute neurological form apparent in infancy.
  • Gaucher disease type 3: A rare inherited biochemical disorder characterized by the deficiency of the enzyme called glucocerebrosidase and accumulation of glycosylceramide (glucocerebroside). There are three forms of this disease: type 1, 2 and 3. Type 3 is a subacute neurological form which often first appears in childhood.
  • Geroderma osteodysplastica: A rare connective tissue disorder characterized mainly by elastic skin, a prematurely aged facial appearance and abnormal calcification of bones causing them to break easily.
  • Gerodermia osteodysplastica: A rare connective tissue disorder characterized mainly by elastic skin, a prematurely aged facial appearance and abnormal calcification of bones causing them to break easily.
  • Gerodermia osteodysplastica hereditaria: A rare connective tissue disorder characterized mainly by elastic skin, a prematurely aged facial appearance and abnormal calcification of bones causing them to break easily.
  • Gerodermia osteodysplasticum: A rare connective tissue disorder characterized mainly by elastic skin, a prematurely aged facial appearance and abnormal calcification of bones causing them to break easily.
  • Gnathodiaphyseal dysplasia: A rare genetic disorder affecting the skeleton and characterized by fragile bones, bowed long bones and recurring infections of the jaw bone.
  • Gorham's syndrome: A very rare bone disorder involving bone loss which can occur in one or more bones.
  • Gracile bone dysplasia: An inherited disorder characterized by brittle bones and thin, slender long bones and ribs as well as other abnormalities.
  • Growth Hormone Receptor Deficiency: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
  • Growth plate injuries: Injury to the growing ends of young bones.
  • Hajdu-Cheney Syndrome: A rare genetic disorder characterized by early tooth loss, relaxed joints, small stature and bone abnormalities.
  • Hand fracture: A fracture of one or several of the bones that create the hand
  • Hemorrhage: Bleeding of any type (especially when referring to severe bleeding)
  • Hip cancer: The presence of tumour growth in the bone of the hip, whether due to primary malignancies e.g. leukaemic or myeloma infiltration of the bone marrow, or due to secondary metastases from another site e.g. lung or breast; cancer affecting bone of hip likely to affect other bones e.g. vertebra, ribs
  • Hip fracture: Fracture of the hip joint
  • Hodgkin's Disease: A form of cancer that affects the lymphatic system.
  • Hodgkin's disease, nodular sclerosis: Hodgkin's disease is a type of cancer characterized by the abnormal proliferation of a type of white blood cell called lymphocyte. Hodgkin's lymphoma is classified into classical types and nodular lymphocyte predominant type. The nodular form tends to be more localized than the classical form. Classical Hodgkin's lymphoma is further subdivided into four subgroups depending on the cell composition of the lymphoma: nodular sclerosing, mixed cellularity, lymphocyte rich and lymphocyte depleted. The nodular sclerosing form is the most common subtype of classical Hodgkin's disease.
  • Hyper-IgE Syndrome: A condition characterized by an excess of immunoglobulin E
  • Hyperdibasic aminoaciduria type 2: A rare inborn urea cycle disorder characterized by an enzyme defect in the amino acid transporter gene SLC7A7 (positive amino acid transporter).
  • Hyperparathyroidism: Increased secretion of parathyroid hormone from the parathyroid glands.
  • Hyperparathyroidism, primary: A rare genetic disorder where excessive activity of the parathyroid gland causes increased blood calcium levels which can cause various problems.
  • Hypophosphatasia: A rare genetic disorder characterized by short limbs, dwarfism and general lack of bone calcification.
  • Hypophosphatemic rickets: A rare genetic type of rickets involving defective phosphate transport and vitamin D metabolism in the kidneys. Poor calcium absorption from the intestines leads to bone softening.
  • Idiopathic osteoporosis: Idiopathic osteoporosis is a rare type of osteoporosis.This type of osteoporosis occurs in children and young adults who have normal hormone levels, normal vitamin levels, and no obvious reason to have weak bones.
  • Infantile hypophosphatasia: An inherited bone disorder due to an inborn error of metabolism characterized by a deficiency of alkaline phosphate. The condition becomes noticeably during infancy and involves a period of normal development (about 6 months) followed by deterioration due to bone demineralization.
  • Jaffe-Lichtenstein syndrome: A rare genetic bone disorder characterized by benign bone growths which can cause painful swellings and bone deformities and makes bone prone to fractures.
  • Juvenile Paget's Disease:
  • Juvenile osteoporosis: Osteoporosis (progressive bone loss) that occurs in children. Osteoporosis in children can be caused by certain medical conditions (e.g. diabetes, malabsorption syndromes, kidney disease, hyperthyroidism), certain medications (e.g. corticosteroids, anticonvulsants), prolonged immobility or sometimes for no detectable reason (idiopathic).
  • Koller syndrome: A rare syndrome involving thickened bones and dry skin with characteristic fish-like scales.
  • Langerhans Cell Histiocytosis: A condition which is characterized by proliferation of Langerhans cells
  • Laron Dwarfism: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
  • Laron Pituitary Dwarfism: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
  • Laron Syndrome: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
  • Laron Type Pituitary Dwarfism 1: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
  • Laron-type Dwarfism Phenotypic Syndrome: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
  • Lethal congenital contracture syndrome (LCCS): A rare inherited lethal disorder characterized by multiple congenital contractures. There are two main types caused by different genetic defects. Type 2 differs from type 1 in that it includes additional head, face and eye symptoms and hydrops, joint webbing and fractures were usually absent.
  • Lethal congenital contracture syndrome 1: A rare inherited lethal disorder characterized by multiple congenital contractures. Type 1 occurs as a result of a genetic defect on chromosome 9q34.
  • Lichstenstein syndrome: A rare syndrome characterized mainly by frequent infections, osteoporosis, weak bones and other bone abnormalities.
  • Lightwood-Albright syndrome: A rare syndrome caused by kidney dysfunction.
  • Lobstein disease: A group of rare inherited diseases that involves fragile bones. There are many different types based on the severity and extent of symptoms. Some types are severe enough to cause stillbirth or infant death whereas other types may cause few if any problematic symptoms.
  • Local swelling: The localized swelling of a body part
  • Localized osteoporosis: Localized osteoporosis is commonly associated with focal skeletal lesions, such as neoplasm and infection.
  • Lymphocyte depletion Hodgkin's disease: Hodgkin's disease is a type of cancer characterized by the abnormal proliferation of a type of white blood cell called lymphocyte. Hodgkin's lymphoma is classified into classical types and nodular lymphocyte predominant type. The nodular form tends to be more localized than the classical form. Classical Hodgkin's lymphoma is further subdivided into four subgroups depending on the cell composition of the lymphoma: nodular sclerosing, mixed cellularity, lymphocyte rich and lymphocyte depleted. The lymphocyte depleted form is the least common form of Hodgkin's disease.
  • Maffucci Syndrome: A rare genetic disorder characterized by benign cartilage overgrowths, skeletal deformities and dark red irregular skin patches.
  • McCune-Albright Syndrome: A rare genetic multisystem disorder characterized by abnormal skin pigmentation and endocrine gland dysfunction and replacement of parts of bone tissue with fibrous material.
  • Menkes Disease: Genetic disease of copper deficiency.
  • Metaphyseal dysplasia Pyle type: A rare genetic disorder characterized by bone deformities involving the limbs, skull and other parts of the skeleton.
  • Metastatic bone cancer: Cancer cells that break off from a primary tumor and enter the bloodstream can reach nearly all tissues of the body. Bones are a common place for these cancer cells to settle in and start growing.
  • Mixed cellularity Hodgkin's disease: Hodgkin's disease is a type of cancer characterized by the abnormal proliferation of a type of white blood cell called lymphocyte. Hodgkin's lymphoma is classified into classical types and nodular lymphocyte predominant type. The nodular form tends to be more localized than the classical form. Classical Hodgkin's lymphoma is further subdivided into four subgroups depending on the cell composition of the lymphoma: nodular sclerosing, mixed cellularity, lymphocyte rich and lymphocyte depleted. The mixed cellularity type if often associated with infection with HIV or Epstein Barr virus.
  • Multiple Myeloma: A rare malignant cancer that occurs in the bone marrow. More common in skull, spine, rib cage, pelvis and legs.
  • Myopathy, limb-girdle, with bone fragility: A rare inherited disorder characterized by easy bone fracturing, poor healing of fractures and progressive weakness of the limb-girdle muscles. The fractures tend to occur before the muscle problems. The slow-healing fractures sometimes resulted in osteomyelitis and limb amputation.
  • Neuropathy, Hereditary Sensory, Type IV: A rare disorder characterized mainly by insensitivity to pain and inability to sweat.
  • Nodular sclerosing Hodgkin's lymphoma: Hodgkin's disease is a type of cancer characterized by the abnormal proliferation of a type of white blood cell called lymphocyte. Hodgkin's lymphoma is classified into classical types and nodular lymphocyte predominant type. The nodular form tends to be more localized than the classical form. Classical Hodgkin's lymphoma is further subdivided into four subgroups depending on the cell composition of the lymphoma: nodular sclerosing, mixed cellularity, lymphocyte rich and lymphocyte depleted.
  • Non-Contagious Diseases: Any disease that is not contagious
  • Non-genetic diseases: Any disease that does not have a genetic component
  • OI, Type I: A genetic condition characterized mainly by fragile bones that fracture easily and blue sclerae. The fractures tend start during early childhood (when walking starts) and becomes worse after menopause or in old age. Fractures tend to heal normally. Type I is the mildest form of osteogenesis imperfecta and results from a reduced amount of normal collagen in the body. Other forms of osteogenesis imperfect tend to involve the presence of abnormal collagen.
  • Occupational Cancer -- Hodgkin's lymphoma: Occupational exposure to wood dust can increase the risk of developing Hodgkin's lymphoma.
  • Ollier Disease: A rare genetic disorder characterized by abnormal bone development.
  • Oncogenic osteomalacia: A rare type of cancer (mesenchymal) that results in osteomalacia or rickets. Osteomalacia and rickets normally occurs as a consequence of a diet deprived of vitamin D. The tumor can occur in bone or soft tissue. The removal of the tumor alleviates the osteomalacia.
  • Osteoarthritis: Osteoarthritis is a chronic condition characterised by mechanical disrturbances due to degradation of joints. It is the most common form of arthritis, and the leading cause of chronic disability.
  • Osteogenesis imperfecta: Weak bones ("brittle bone disease") and loose joints
  • Osteogenesis imperfecta -- congenital joint contractures: A very rare syndrome characterized primarily by weak, brittle bones and abnormal knee, ankle and foot joints (congenital contractures) at birth. There are two different subtypes of the disorder, each with a different genetic defect origin: Bruck Syndrome 1 and Bruck Syndrome 2.
  • Osteogenesis imperfecta Type I: A rare genetic connective tissue disorder characterized by fragile bones, blue sclerae and hyperextensible joints.
  • Osteogenesis imperfecta type II: A rare lethal form of the genetic connective tissue disorder characterized by fragile bones, blue sclerae and facial and tooth abnormalities.
  • Osteogenesis imperfecta type IV: A rare genetic connective tissue disorder characterized by fragile bones and blue sclerae. The osteoporosis tends to be moderate and there is generally no joint hyperextensibility.
  • Osteogenesis imperfecta, Levin type: A genetic bone disorder which causes fragile bones.
  • Osteogenesis imperfecta, type 1A: A rare genetic connective tissue disorder characterized by fragile bones and hyperextensible joints - a type of osteogenesis imperfecta I where the teeth are opalescent and blue sclerae may be absent.
  • Osteogenesis imperfecta, type 1B: A rare genetic connective tissue disorder characterized by fragile bones and hyperextensible joints - a milder form of osteogenesis imperfecta I where the teeth are normal and blue sclerae may be absent.
  • Osteogenesis imperfecta, type 2: A rare lethal form of the genetic connective tissue disorder characterized by fragile bones, blue sclerae and facial and tooth abnormalities.
  • Osteogenesis imperfecta, type 2A: A rare lethal form of a genetic connective tissue disorder characterized by fragile bones, blue sclerae and facial and tooth abnormalities. Type IIA has a different origin of the genetic mutation but the clinical features are similar. Type IIA involves a defect on the COL1A2 gene. The main difference is that type IIA tends to involve a large head and dark blue eyes.
  • Osteogenesis imperfecta, type 4: A rare genetic connective tissue disorder characterized by fragile bones and blue sclerae - a form of OI involving moderate osteoporosis and no joint hyperextensibility.
  • Osteogenesis imperfecta, type IIB: A rare, recessively inherited, lethal form of a genetic connective tissue disorder characterized by fragile bones, blue sclerae and facial and tooth abnormalities. Type IIB has a different origin of the genetic mutation but the clinical features are similar. Type IIB involves a defect on the CRTAP gene on chromosome 3p22. The main difference is that type IIA tends to involve a small head and white or light blue eyes.
  • Osteomalacia: A condition where the bones gradually soften and bend due to poor calcification stemming from a lack or impaired metabolism of vitamin D.
  • Osteopetrosis -- renal tubular acidosis: A rare disorder where increased bone density is caused by carbonic anhydrase II deficiency.
  • Osteopetrosis lethal: A severe, lethal form of the brittle bone condition called osteopetrosis.
  • Osteopetrosis with renal tubular acidosis: A rare disorder where increased bone density is caused by carbonic anhydrase II deficiency.
  • Osteopetrosis, autosomal recessive 4: A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. The malignant infantile form is the most severe form of this disorder and death usually occurs in the first decade of life.
  • Osteopetrosis, intermediate form: A recessively inherited bone disease characterized bybrittle bones with increased density. The intermediate form is less severe than the infantile form but more severe than the adult form.
  • Osteoporosis: Bone thinning and weakening from bone calcium depletion.
  • Paget's disease of bone: A chronic, slowly progressing bone disorder where the bone is destroyed rapidly and replaced by abnormal bone which is dense and fragile.
  • Pain: A feeling of suffering, agony, distress caused by the stimulation of pain fibres in the nervous system
  • Parathyroid Cancer: A condition that is characterised by malignancy that affects the parathyroid
  • Parathyroid cancer, adult: A rare cancer that can occur in the parathyroid gland in adults. The parathyroid glands regulate body calcium levels so cancer of the gland upsets the body's calcium balance causing muscle, bone and other symptoms.
  • Parathyroid hyperplasia: A condition which is characterized by hyperplasia of the thyroid gland
  • Pathological fracture: The occurrence of a fracture a bone of the body caused by a disease state
  • Pelvic fracture: A fracture in the bone of the pelvis
  • Perinatal hypophosphatasia: An inherited bone disorder due to an inborn error of metabolism characterized by a severe deficiency of alkaline phosphate which results in death before or within days of birth.
  • Peripheral neuropathy: Peripheral neuropathy is the term for damage to nerves of the peripheral nervous system, which may be caused either by diseases of the nerve or from the side-effects of systemic illness.
  • Phosphate diabetes: A condition where the kidney tubules fail to reabsorb phosphate resulting in excess phosphate in the urine.
  • Physical conditions: Any condition that physically affects an individual
  • Postmenopausal osteoporosis: Type 1 osteoporosis is caused by a lack of estrogen, the main female hormone.
  • Pregnancy-associated osteoporosis: Osteoporosis in pregnancy is a very rare disorder.
  • Primary hyperoxaluria type 1: A rare inherited inborn metabolic disorder characterized by excessive amounts of oxalate in the urine and deposits of oxalate in the kidneys which leads to progressive kidney failure. There are two subtypes of Oxalosis, each with a different origin for the genetic defect involved. Type 1 involves a deficiency of a liver enzyme called Alanine-glyoxylate aminotransferase. Type 2 tends to cause a milder disease than type 1 with better longterm outcomes.
  • Primary osteoporosis: There are two primary kinds of osteoporosis: type I osteoporosis and type II osteoporosis. The determining factor for the actual existence of osteoporosis, whether type I or type II, is the amount of calcium left in the skeleton and whether it places a person at risk for fracture.
  • Progressive Supranuclear Palsy: A disorder characterized by reduced motor control, dementia and eye movement problems.
  • Protein S acquired deficiency: A rare disorder involving a deficiency of a blood protein called protein S. Protein S prevents blood from clotting in the veins. A deficiency of protein S can be acquired through liver disease, chemotherapy, lack of vitamin K or through the use of oral anticoagulants or L-asparaginase.
  • Proximal spinal muscular atrophy: A rare group of muscle disorders which mainly affects the muscles closest to the trunk of the body. Muscles become progressively weak and wasted due to damage to motor neurons in the spinal cord and brainstem.
  • Pseudophosphatasia: A rare condition where infants have all the physical features of infantile hypophosphatasia but alkaline phosphatase activity is normal.
  • Rajab-Spranger syndrome: A rare syndrome characterized mainly by a skin fat disorder, mental retardation and deafnes.
  • Rathburn disease: A rare inherited condition involving bone and teeth mineralization abnormalities and reduced phosphatase enzyme activity. The severity of the disorder varies according to the degree of reduction in phosphatase activity.
  • Renal osteodystrophy: Lack of bone mineralization due to kidney disease.
  • Renal rickets: A bone disease where kidney dysfunction causes bone resorption and results in weak, soft bones.
  • Rib fracture: A fracture of the ribs
  • Secondary osteoporosis: describe osteoporosis resulting from a medical condition or the use of certain medications.
  • Senile osteoporosis: Senile osteoporosis is reduced mineralization of bone due to advanced age.
  • Shaken Baby Syndrome: A condition caused by violent shaking of a baby.
  • Shock: Severe condition from reduced blood circulation
  • Shoulder Fracture: Fracture of the shoulder joint
  • Skull fracture: A fracture of the bones of the skull
  • Sphingolipidosis: A group of diseases involving the abnormal metabolism and storage of a substance called sphingolipid. Symptoms will vary depending on the disease. Examples of diseases from this group include gangliosidosis, Gaucher's disease and Niemann-Pick disease.
  • Sprain: Ligament injury near a joint; compare strain
  • Stanescu syndrome: A rare disorder involving abnormal bone and cartilage development
  • Stiff-Person Syndrome: A very rare progressive neurological disorder involving muscle tightness and painful muscle spasms.
  • Sub clinical hypothyroidism: Sub clinical hypothyroidism, also referred to as mild hypothyroidism, is defined as normal serum free T4 levels with slightly high serum TSH concentration.
  • Subclinical hyperthyroidism: Subclinical hyperthyroidism is characterized by a low or undetectable concentration of serum thyrotropin (TSH) with free triiodothyronine (FT3) and free thyroxine (FT4) levels within laboratory reference ranges.
  • Thalassemia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. There are two subtypes of the disorder (alpha and beta) depending on what portion of the hemoglobin is abnormally synthesized. Each of these subtypes can be further classified depending on the number of thalassemia genes involved. A total of four genes is needed to make each ? protein chains and two genes are needed to make each ? chain. The main symptom is anemia, the severity of which can vary amongst patients depending on how many defective genes are involved.
  • Thick skull syndrome: An inherited bone condition where the skull bones become abnormally thick and trap some of the skull nerves.
  • Trichorhinophalangeal Syndrome Type II:
  • Trichorhinophalangeal syndrome type 2: A rare genetic disorder characterized by bony growths, bulbous nose, distinctive facial features and loose excess skin during infancy.
  • Type I spinal osteoporosis: Spinal osteoporosis is rarely diagnosed until spinal bones have broken. These breaks occur at the weakest points of the spinal column.

 

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