Assessment
Questionnaire

Have a symptom?
See what questions
a doctor would ask.
 
Symptoms » Bone changes » Glossary
 

Glossary for Bone changes

Medical terms related to Bone changes or mentioned in this section include:

  • Abderhalden-Kaufmann-Lignac syndrome: A rare inherited childhood disorder involving deposits of cystine crystals in various parts of the body, especially the conjunctiva and cornea.
  • Achondrogenesis type 1A: A rare genetic disorder characterized by abnormal cartilage formation and growth of bones. Type 1A differs from other types by the origin of the genetic defect. Type 1A involves abnormal cartilage-forming cells (chondrocytes) whereas type 1B involves an abnormal cartilage matrix. Type 1B is the most severe disorder.
  • Achondrogenesis, type 3: Severely abnormal bone development which invariably results in death before or soon after birth. Type III may actually be a part of achondrogenesis type II.
  • 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.
  • Acidosis: The accumulation of hydrogen ions or the depletion of the alkaline reserve in the body.
  • Acrocephalopolydactyly II: A rare genetic disorder characterized by head, hand and genital anomalies as well as mental retardation.
  • Acromegaly: An abnormal enlargement of the limbs due to increased secretion of growth hormone after the cessation of puberty
  • Adult hypophosphatasia: An rare inherited bone disorder due to an inborn error of metabolism characterized by a deficiency of alkaline phosphate. The condition involves the early loss of primary teeth and childhood rickets followed by a reasonable health until mid-adulthood when dental and skeletal abnormalities again become prevalent.
  • Albright's hereditary osteodystrophy: A rare genetic disorder where the body fails to recognize and respond to the parathyroid hormone. The parathyroid hormone is involved in controlling the blood levels of calcium and phosphate.
  • Alcohol use: Use of alcohol (as a symptom)
  • Alpha-mannosidosis type II: A rare inherited metabolic disorder involving a deficiency of an enzyme (alpha-mannosidosase) which results in the accumulation of certain chemicals in the body which leads to progressive damage. This form of the condition is less severe than type I (infantile form).
  • Alpha-mannosidosis, adult-onset form:
  • Angio-osteohypotrophic syndrome: A rare disorder characterized by malformation of the peripheral (usually veins) blood vessels and skeletal abnormalities. The malformed blood vessels cause localized soft tissue swellings and if veins in bones are affected, the bone may degenerate due to an insufficient blood supply. Usually the hands are affected.
  • Ankylosing Spondylitis: A form of chronic inflammation of the spine which may also affect joints in the shoulder, hip, neck, ribs and jaw. May result in loss of mobility. Also called Marie-Strumpell disease.
  • Avitaminosis: A group of diseases caused by the deficiency of one or more vitamins e.g. Beriberi (thiamine deficiency), rickets (Vitamin D deficiency), pellagra (niacin deficiency), pernicious anemia (Vitamin B12), bleeding (vitamin K deficiency) and night blindness (avitaminosis A). Symptoms depend on the type and degree of vitamin deficiency. Lack of various vitamins can affect just about every part of the body including the nervous system.
  • Axenfeld-Rieger anomaly -- hydrocephaly -- skeletal abnormalities: A rare syndrome characterized mainly by skeletal abnormalities, excess fluid inside the skull and eye anomalies.
  • Baber's syndrome: A very rare syndrome characterized by the association of congenital liver cirrhosis with Fanconi syndrome.
  • Bartter Syndrome: A rare genetic disorder of kidney metabolism characterized by reduced blood acidity and low potassium levels.
  • Bartter's syndrome, antenatal type 1: A rare genetic kidney disorder that causes hypokalemia. A defect in the NKCC2 gene impairs the functioning of the Na-Cl cotransporter and leads to electrolyte imbalance. The rate of death is high prior to diagnosis.
  • Bartters syndrome, antenatal , type 2: A rare genetic kidney disorder that causes hypokalemia. A defect in the ROMK gene impairs the ATP-regulated potassium channel functioning and leads to electrolyte imbalance.
  • Beemer-Ertbruggen syndrome: A rare lethal syndrome characterized primarily by hydrocephalus, heart malformations, and increased bone density. Only a couple of cases have been reported.
  • Bessel-Hagen disease: A dominantly inherited disorder characterized by growth of multiple tumors made up of cartilage on the bones.
  • Bile acid synthesis defect, congenital, 2: A defect which prevents the body from making bile acid which results in progressive liver disease. The defect is a deficiency of a particular enzyme (cholestasis with delta(4)-3-oxosteroid 5-beta-reductase) needed to make bile acid.
  • Bile acid synthesis defect, congenital, 4: A defect which prevents the body from making bile acid which results in progressive liver disease.
  • Bile acid synthesis defects: A defect which prevents the body from making bile acid which results in progressive liver disease.
  • Bile acid synthesis defects, congenital, 1: A defect which prevents the body from making bile acid which results in progressive liver disease. The defect is a deficiency of a particular enzyme (3-beta-hydroxy-delta-5-C27-steroid oxidoreductase) needed to make bile acid.
  • Bile acid synthesis defects, congenital, 2: A defect which prevents the body from making bile acid which results in progressive liver disease. The defect is a deficiency of a particular enzyme (cholestasis with delta(4)-3-oxosteroid 5-beta-reductase) needed to make bile acid.
  • Bile acid synthesis defects, congenital, 3: A defect which prevents the body from making bile acid which results in progressive liver disease. The defect involved a deficiency of 7-alpha-hydroxylase which is an enzyme needed to prevent the accumulation of 27-hydroxycholesterol which is toxic to the liver.
  • Bile acid synthesis defects, congenital, 4: A defect which prevents the body from making bile acid which results in progressive liver disease.
  • Body symptoms: Symptoms affecting the entire body features.
  • 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 loss: A condition which is characterized by the loss of the amount of bone in ones body particular its density
  • Bone pain: Pain affecting the bones
  • Bone symptoms: Symptoms affecting the body's bones
  • CDG syndrome type 4: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 4 is caused by a genetic defect which involves the gene for a particular enzyme (dolichyl-P-mannose:Man-5-GlcNAc-2-PP-dolichyl-mannosyltransferase).
  • CDG syndrome type I: A rare genetic disorder where the body is unable to synthesize glycoproteins which results in multisystem problems.
  • CRMO, juvenile: A rare chronic inflammatory bone disease that occurs in children. The symptoms go into periods of remission only to return. The most common sites for the inflammation are the shinbone, thighbone and collarbone with usually several sites being affected at once.
  • Celiac Disease: Digestive intolerance to gluten in the diet.
  • Cerebellar hypoplasia -- endosteal sclerosis: A rare disorder character where a part of the brain (cerebellum) is underdeveloped and abnormally increased bone density (endosteal sclerosis).
  • Cerebro-oculo-dento-auriculo-skeletal syndrome: A very rare syndrome characterized by abnormalities of the brain, eyes, teeth, ears and skeleton.
  • Childhood hypophosphatasia: An inherited bone disorder due to an inborn error of metabolism characterized by a deficiency of alkaline phosphate which results in loss of deciduous teeth before the age of 5 as well as muscle and bone problems - childhood onset.
  • Chondrodysplasia, type Nance-Sweeney: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
  • Chondrodystrophy: A condition where cartilage is converted to bone resulting in dwarfism with normal size trunk but shortened limbs and extremeties.
  • Chondromatosis (benign): Benign cartilage growths that can occur in various parts of the body. Symptoms are determined by the size and exact location of the growth. For example, a spinal chondroma can result in compression of the spinal cord.
  • Christian-Demyer-Franken syndrome: A rare syndrome characterized mainly by mental retardation and skeletal abnormalities.
  • Chromosome 21 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 21 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
  • Chronic recurrent multifocal osteomyelitis: A rare chronic inflammatory bone disease that occurs in children. The symptoms go into periods of remission only to return. The most common sites for the inflammation are the shinbone, thighbone and collarbone with usually several sites being affected at once.
  • Coffin-Lowry syndrome: A rare genetic disorder characterized by down slanting space between eyelids, bulbous nose, soft hands and tapering fingers.
  • Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal/Spinal abnormalities: A rare syndrome characterized by overgrowth of fatty tissue, blood vessel malformations, birth marks and skeletal and spinal abnormalities. The condition is a progressive one and there have been less than 20 reported cases.
  • Connective tissue disorders: Any condition affecting connective tissues.
  • Copper deficiency, familial benign: A rare inherited copper deficiency. Copper has many functions in the body including heart function, cholesterol metabolism, brain development, immune defenses, blood supply, glucose metabolism and normal bone development.
  • Cushing-like symptoms: Symptoms similar to those of Cushing's disease
  • Cutis laxa -- osteoporosis: A very rare disorder characterized mainly by loose skin and osteoporosis. The bones are so weak they fracture easily during infancy and can result in bone deformity.
  • Cutis laxa, recessive: A recessively inherited form of cutis laxa which is characterized by loose, inelastic skin and is often associated with other serious internal disorders.
  • Cutis laxa, recessive type 1: A severe, recessively inherited form of cutis laxa which is characterized by loose, inelastic skin and emphysema early in life.
  • Cutis laxa, recessive type 2: A very rare syndrome characterized primarily by loose skin and delayed development.
  • Deafness -- skeletal dysplasia -- lip granuloma: A very rare syndrome characterized mainly by deafness, skeletal abnormalities, mental retardation and full lips.
  • Deafness conductive -- ptosis -- skeletal anomalies: A very rare syndrome characterized mainly by deafness, droopy eyelids and skeletal abnormalities.
  • Dent syndrome: A rare X-linked inherited kidney disorder involving kidney tubule damage resulting in progressive kidney dysfunction.
  • Dent's disease: A rare kidney disease inherited in a X-linked manner. It involves kidney tubule damage which results in progressive kidney dysfunction. There are two types of Dent's disease and they differ in the origin of the genetic defect.
  • Developmental problems: Physical or mental development difficulty.
  • Diaphyseal aclasis: A rare inherited bone development abnormality where excessive bone growths form on developing bones. The bony projections can affect surrounding tissue such as nerves and cause further symptoms. The disorder carries the risk of developing chondrosarcoma which is a type of bone cancer.
  • Ear, patella, short stature syndrome: A very rare inherited disorder abnormalities of the inner and outer ear structures, missing kneecap and short stature as well as other physical and developmental abnormalities.
  • Elephant man in context of NF: A rare disorder where a limb becomes enlarged due to neurofibromatosis of the skin and the tissue under it. Neurofibromatosis is a disorder involving the development of benign nerve and skin tumors. When large areas of nerves are affected in one limb then the limb becomes enlarged.
  • Emanuel syndrome: A rare chromosomal disorder where a portion of chromosome 11 is translocated with a portion of chromosome 22. The disorder involves a wide range of abnormalities such as kidney, genital and heart abnormalities, mental retardation, small head and failure to thrive.
  • Empty Sella Syndrome: Congenital defect of the brain.
  • Enchondromatosis (benign): Benign cartilage growths that develop inside bones.
  • 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.
  • Epilepsy -- microcephaly -- skeletal dysplasia: A rare syndrome characterized by epilepsy, a small head and skeletal abnormalities.
  • Exostoses, multiple, type 1: Multiple extoses is a rare condition involving abnormal bone growths that occurs on bones. Type I differs from type II and III in the location of the genetic defect that causes the disorder. Type I tends to involve more bone growths and shorter arm and leg bones.
  • Exostoses, multiple, type 2: Multiple extoses is a rare condition involving abnormal bone growths that occurs on bones. Type II differs from type I and III in the location of the genetic defect that causes the disorder. Type I tends to be less severe than type I.
  • Exostoses, multiple, type 3: Multiple extoses is a rare condition involving abnormal bone growths that occurs on bones. Type II differs from type I and III in the location of the genetic defect that causes the disorder. Type I tends to be less severe than type I.
  • Face symptoms: Symptoms affecting the face
  • Factor IX Deficiency: A condition which is characterized by a deficiency of a factor Ix which is essential for the process of blood clotting
  • Familial Expansile Osteolysis: An hereditary condition characterized by degradation of the bones of the body
  • Familial hypertryptophanemia: A rare genetic metabolic disorder characterized by high levels of tryptophan in the blood. The disorder tends to run in families (familial).
  • 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.
  • Fanconi syndrome: Fanconi syndrome that occurs secondary to the accumulation of crystals of light-chain immunoglobulin molecules in the kidney tubules which affects their functioning.
  • Faye-Petersen-Ward-Carey syndrome: A very rare syndrome characterized by excess fluid in the skull, a blood disorder and bone and bone abnormalities.
  • 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.
  • Fractures: Breakage of bones
  • Fraser-Jequier-Chen syndrome: A very rare disorder characterized by a cleft epiglottis and larynx, extra fingers and toes and kidney, pancreatic and bone abnormalities. The internal organs are also located on the opposite side of the body to normal (situs inversus totalis).
  • Growth plate injuries: Injury to the growing ends of young bones.
  • Growth symptoms: Symptoms related to poor or excessive growth.
  • Gurrieri-Sammito-Bellussi syndrome: A rare syndrome characterized by epilepsy, short stature and skeletal abnormalities.
  • Haferkamp syndrome: A severe lymphatic malformation syndrome involving multiple hemangiomas and gradual spontaneous bone resorption. It is a severe generalized form of Gorham syndrome which is a lymphatic malformation syndrome involving the bone.
  • Head symptoms: Symptoms affecting the head or brain
  • Hemochromatosis: Excess of iron leading to problems with joints, liver, heart and pancreas.
  • Hemophilia B: A rare coagulation disorder caused by a deficiency of factor IX which results in bleeding problems.
  • Hereditary primary Fanconi disease: A rare inherited disorder characterized by defective reabsorption of various substances such as phosphate, potassium, amino acids and glucose which manifests as a wide range of abnormalities and problems.
  • Hip Replacement: The replacement of a hip with an synthetic joint
  • Homocystinuria: A rare inherited metabolic disorder involving the amino acid methionine and resulting in a harmful accumulation of homocysteine in the body.
  • Homocystinuria due to defect in methylation cbl e: An inherited organic acid disorder where an enzyme deficiency (methionine synthase reductase) impairs the body's ability to break down certain proteins consumed in the diet. This results in a buildup of methylmalonic acid and homocystine which results in harmful affects. It is a form of vitamin B12 deficiency.
  • Hutterite cerebroosteonephrodysplasia syndrome: A very rare disorder characterized by short stature and a severe degenerative brain disorder.
  • Hyper-IgE Syndrome: A condition characterized by an excess of immunoglobulin E
  • Hyperostosis cortical infantile: A rare inflammatory disorder that affects bones and soft tissue in infants. The condition may affect virtually any bone and causes excessive enlargement of part of the bone (cortex). Infant feeding problems may occur if the jaw bone is affected which can affect weight gain. The inflammatory course of the disease eventually stops and over time the bones remodel to a normal appearance.
  • Hypersecretion of growth hormone: increased production of growth hormone from the pituitary gland
  • Hypertryptophanemia: A rare genetic metabolic disorder characterized by high levels of tryptophan in the blood.
  • Hypophosphatemia, Familial: An inherited disorder involving low blood phosphate levels due to problems with the transport of phosphate and problems with vitamin D metabolism. Vitamin D and phosphates are not properly absorbed from the kidneys which can lead to bone problems if not treated.
  • 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.
  • Hypothalamic hamartomas: A benign congenital tumor that develops on or near the hypothalamus.
  • Inborn amino acid metabolism disorder: A group of inherited disorders where the body is not able to metabolize amino acids consumed in the diet. Amino acids are a part of carbohydrates, fats and proteins and are metabolized in order to provide energy or to make other needed compounds. There are many steps involved in metabolism and the severity can be greatly variable depending on the exact nature of the disorder.
  • 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.
  • Inflammatory bowel disease: Inflammatory bowel disease refers to digestive symptoms resulting from chronic bowel inflammation. Crohn's disease and ulcerative colitis are two of the main subtypes of the disease. Scientists have discovered an array of genetic mutations which can result in an increased susceptibility to inflammatory bowel disease. Not all people with the genetic anomaly will develop the condition but it can increase the risk especially if other environmental factors are also present. The severity of the disease that develops is variable.
  • Intellectual deficit -- cataracts -- calcified pinnae -- myopathy: A very rare syndrome characterized mainly by mental retardation, cataracts, muscle disease and calcified ear cartilage. The muscle wasting starts in the lower legs and eventually involves the small hand muscles.
  • Intrauterine growth retardation -- metaphyseal dysplasia -- adrenal hypoplasia congenita -- genital anomalies: A rare syndrome characterized by retarded fetal growth, abnormal bone development, underdeveloped adrenal glands and genital abnormalities.
  • Juvenile Paget's Disease:
  • Klinefelter syndrome variant:
  • Klinefelter syndrome, variants: A genetic condition where males have at least one extra X chromosome or extra copies of both the X and Y chromosomes in each cell. Normally male cells contain one X and one Y chromosome in each cell. The condition is not inherited but is a result of problems during cell division.
  • 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.
  • Lowe Syndrome: An X linked condition characterized by vitamin D deficiency and causing an oculocerebrorenal syndrome
  • Lowe oculocerebrorenal syndrome: A rare inherited metabolic disorder characterized primarily by eye and bone abnormalities, mental retardation and kidney problems.
  • MASA Syndrome: A very rare inherited disorders characterized by mental retardation (M), aphasia (A), shuffling walk (S) and adducted thumbs (A). The symptoms are variable from case to case but mental retardation is a consistent feature.
  • Majeed syndrome: A rare syndrome characterized by blood abnormality and recurring bone infections.
  • Manz syndrome: A rare inherited kidney disorder characterized low blood magnesium and high urine calcium levels as well as nystagmus.
  • Marfan syndrome: A genetic connective tissue disorder involving a defect of chromosome 15q21.1 which affects the production of the fibrillin needed to make connective tissue.
  • 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.
  • Menopause: End of female reproductive years
  • Mental retardation cataracts calcified pinnae myopathy: A very rare syndrome characterized mainly by mental retardation, cataracts, muscle disease and calcified ear cartilage. The muscle wasting starts in the lower legs and eventually involves the small hand muscles.
  • Metabolic disorder: occurs when abnormal chemical reactions occur in the body
  • Methotrexate -- Teratogenic Agent: There is evidence to indicate that exposure to Methotrexate during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Microcephalic osteodysplastic primordial dwarfism, type 1: A form of dwarfism associated with brain and skeletal abnormalities.
  • Mucopolysaccharidosis VII: Disorder of mucopolysaccharide metabolism.
  • Multiple Hereditary Exostoses: An hereditary condition which is characterized by benign bony growths projecting from a bone surface
  • Multiple Skeletal abnormalities with Anterior Segment Anomalies of the Eye and Early Lethality: A rare condition characterized by various skeletal and eye abnormalities and early death. The parents of the children reported with the condition are believed to be related.
  • Multiple Sulfatase Deficiency: A condition characterized by multiple sulfatase deficiencies
  • Multiple myeloma: A rare malignant cancer that occurs in the bone marrow. More common in skull, spine, rib cage, pelvis and legs.
  • Multiple pterygium syndrome lethal type: A rare syndrome characterized by skin, muscle and skeletal anomalies and fetal death.
  • 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.
  • Nephrolithiasis type 1: A rare X-linked inherited kidney disorder involving kidney tubule damage resulting in progressive kidney dysfunction. The disorder is caused by a genetic mutation on chromosome Xp11.22.
  • Nephrolithiasis type 2: A rare X-linked inherited kidney disorder involving kidney tubule damage resulting in progressive kidney dysfunction. The disorder is caused by a genetic mutation on chromosome Xq26.1.
  • Nerve symptoms: Symptoms affecting the nerves
  • Neurofibromatosis Type 1 (NF-1): Neurofibromatosis Type 1 is a genetic disorder often leading to the development of nerve tumors. The condition is also characterized by skin pigmentation abnormalities.
  • Neurofibromatosis-1: Genetic disorder often leading to tumors on nerves.
  • Numbness of both elbows: Numbness of both elbows refers to the loss or reduction of sensation in the elbows.
  • OSMED, Homozygous: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
  • Ollier Disease: A rare genetic disorder characterized by abnormal bone development.
  • Oncogenic hypophosphatemic osteomalacia: A rare condition where a mesenchymal tumor causes low blood phosphate levels. This affects bone mineralization resulting weak, fragile bones and other symptoms.
  • Ossified Ear cartilages with Mental deficiency, Muscle Wasting and Bony Changes: A very rare syndrome characterized mainly by mental retardation, cataracts, muscle disease and calcified ear cartilage. The muscle wasting starts in the lower legs and eventually involves the small hand muscles.
  • Osteitis: Inflammation of bone.
  • Osteoarthritis: A form of degenerative arthritis due to chronic degeneration
  • Osteoarthritis Susceptibility: Osteoarthritis refers to degeneration of the joints which causes symptoms such as joint pain and stiffness. Researchers have discovered a number of genes linked to an increased risk of developing osteoarthritis. Genetic forms of osteoarthritis tend to have an earlier onset.
  • Osteoarthritis Susceptibility 1: Osteoarthritis refers to degeneration of the joints which causes symptoms such as joint pain and stiffness. Researchers have discovered a number of genes linked to an increased risk of developing osteoarthritis. Genetic forms of osteoarthritis tend to have an earlier onset. Type 1 is linked to a defect on chromosome 21q21-q33 and tends to primarily affect the hip joints.
  • Osteoarthritis Susceptibility 2: Osteoarthritis refers to degeneration of the joints which causes symptoms such as joint pain and stiffness. Researchers have discovered a number of genes linked to an increased risk of developing osteoarthritis. Genetic forms of osteoarthritis tend to have an earlier onset. Type 2 is linked to a defect on chromosome 2p24-p23 and tends to primarily affect the hand joints.
  • Osteoarthritis Susceptibility 3: Osteoarthritis refers to degeneration of the joints which causes symptoms such as joint pain and stiffness. Researchers have discovered a number of genes linked to an increased risk of developing osteoarthritis. Genetic forms of osteoarthritis tend to have an earlier onset. Type 3 is linked to a defect on chromosome 9q21.3-q22 and tends to primarily affect the knee and hip joints.
  • Osteoarthritis Susceptibility 4: Osteoarthritis refers to degeneration of the joints which causes symptoms such as joint pain and stiffness. Researchers have discovered a number of genes linked to an increased risk of developing osteoarthritis. Genetic forms of osteoarthritis tend to have an earlier onset. Type 4 is linked to a defect on chromosome 2q33.3.
  • Osteoarthritis Susceptibility 5: Osteoarthritis refers to degeneration of the joints which causes symptoms such as joint pain and stiffness. Researchers have discovered a number of genes linked to an increased risk of developing osteoarthritis. Genetic forms of osteoarthritis tend to have an earlier onset. Type 5 is linked to a defect on chromosome 20q11.2 and tends to primarily affect the hip joints.
  • Osteoarthritis Susceptibility 6: Osteoarthritis refers to degeneration of the joints which causes symptoms such as joint pain and stiffness. Researchers have discovered a number of genes linked to an increased risk of developing osteoarthritis. Genetic forms of osteoarthritis tend to have an earlier onset. Type 6 is linked to a defect on chromosome 3p24.3 and tends to primarily affect the knee joints.
  • Osteochondroses: Various diseases affecting the ends of long bones
  • Osteodysplastic dwarfism, Corsello type: A rare form of recessively inherited severe dwarfism.
  • Osteogenesis imperfecta: Weak bones ("brittle bone disease") and loose joints
  • Osteomyelitis: An infection that occurs in bone
  • Osteopenia: A condition which is characterized by reduced bone mass
  • Osteopetrosis: A bone condition characterized by brittle bones and increased bone density which increases the risk of bone fractures.
  • Osteopetrosis lethal: A severe, lethal form of the brittle bone condition called osteopetrosis.
  • Osteopetrosis, autosomal recessive 2: 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. This form is relatively mild with survival possible for a couple of decades in some cases.
  • 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.
  • Osteopetrosis, mild autosomal recessive form: A rare disorder characterized by abnormally increased bone density as old bone is not resorbed and replaced with new bone. This form is relatively mild.
  • Osteoporosis: Bone mass loss (osteoporosis) as a symptom
  • Osteosarcoma: Osteosarcoma is the most common type of malignant bone cancer, accounting for 35% of primary bone malignancies. There is a preference for the metaphyseal region of tubular long bones. 50% of cases occur around the knee.
  • Osteosclerosis -- ichthyosis -- premature ovarian failure: A very rare syndrome characterized mainly by increased bone density, scaly skin and premature menopause.
  • Osteosclerosis with ichthyosis and premature ovarian failure: A very rare syndrome characterized mainly by increased bone density, scaly skin and premature menopause.
  • Oto-spondylo-megaepiphyseal dysplasia, autosomal recessive: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
  • Oto-spondylo-megaepiphyseal dysplasia, homozygous: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
  • Otoonychoperoneal syndrome: A very rare syndrome characterized mainly by underdeveloped ears and nails, shoulder anomalies and straight collarbones.
  • Otospondylomegaepiphyseal dysplasia: A rare genetic disorder where abnormal bone growth causes hearing loss, skeletal abnormalities and characteristic facial features.
  • Paget's Disease: Breast carcinoma involving nipple and areola.
  • 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.
  • Pelizaeus-Merzbacher Disease: Rare brain myelin disorder.
  • Peripheral type neurofibromatosis:
  • Physical inactivity: When an individual is physically inactive
  • Pierre Robin syndrome skeletal dysplasia polydactyly: A rare disorder characterized by the Pierre-Robin sequence (underdeveloped jaw, cleft soft palate and abnormal tongue location), extra fingers and skeletal abnormalities.
  • Pointer syndrome: A rare syndrome characterized mainly by skeletal abnormalities, permanently flexed fingers, facial anomalies and feeding problems.
  • Polyostotic osteolytic dysplasia, hereditary expansile: A very rare syndrome characterized by severe bone pain and deformity as well jaw and ear abnormalities. Deafness usually starts in the first decade. Bone symptoms such as pain usually start in the second decade.
  • Primary biliary cirrhosis: Primary biliary cirrhosis is a chronic and progressive cholestatic disease of the liver.
  • Primary bone cancer: Primary bone cancer is where a cancer originates in a bone.
  • Primerose syndrome: A very rare syndrome characterized mainly by mental retardation, cataracts, muscle disease and calcified ear cartilage. The muscle wasting starts in the lower legs and eventually involves the small hand muscles.
  • Primrose Syndrome: A very rare syndrome characterized mainly by mental retardation, cataracts, muscle disease and calcified ear cartilage. The muscle wasting starts in the lower legs and eventually involves the small hand muscles.
  • Pseudophosphatasia: A rare condition where infants have all the physical features of infantile hypophosphatasia but alkaline phosphatase activity is normal.
  • Pterygium syndrome, X-linked: A rare disorder involving skin, bone and muscle abnormalities with webbing in parts of the body such as the neck, elbows and back of legs.
  • Pycnodysostosis: A rare inherited biochemical disorder involving an enzyme (cathepsin k) deficiency which impairs the processes needed to maintain healthy bones.
  • Pyknoachondrogenesis: A very rare lethal syndrome characterized mainly by abnormal skeletal growth as well as abnormal bone calcification.
  • Pyknodysostosis: A condition which is characterized by a hereditary syndrome of short stature, osteoporosis, and skeletal abnormalities
  • Raine syndrome: A very rare syndrome characterized mainly by increased bone density which ultimately results in death.
  • Reflex sympathetic dystrophy syndrome: A condition characterized by pain and reduced range of motion in the shoulder and hand of the affected arm.
  • Refsum Disease: A metabolic disorder where a deficiency of phytanic acid alpha-hydroxylase results in a buildup of phytanic acid in the body which causes neurological disorders.
  • Renal osteodystrophy: Lack of bone mineralization due to kidney disease.
  • Renal tubular acidosis progressive nerve deafness: A kidney disorder where progressive nerve deafness is associated with the kidney's is inability to effectively remove acid from the blood and excrete it into the urine. The defect occurs in the distant portion of the kidney tubules whose job is to remove acid from the blood and excrete it through the urine.
  • Renal tubular acidosis, distal: A kidney disorder where the kidney is unable to effective remove acid from the blood and excrete it into the urine. The defect occurs in the distant portion of the kidney tubules whose job is to remove acid from the blood and excrete it through the urine.
  • Renal tubular acidosis, distal -- type I: A kidney disorder where the kidney is unable to effective remove acid from the blood and excrete it into the urine. The defect occurs in the distant portion of the kidney tubules whose job is to remove acid from the blood and excrete it through the urine. Type I also involves potassium level abnormalities.
  • Renal tubular acidosis, distal -- type III: A kidney disorder where the kidney is unable to effective remove acid from the blood and excrete it into the urine. The defect occurs in the distant portion of the kidney tubules whose job is to remove acid from the blood and excrete it through the urine. Type III involves the potassium level abnormalities of type I as well as bicarbonate level abnormalities resulting from excessive bicarbonate removal from the blood at the proximal part of the kidney tubules.
  • Renal tubulopathy -- diabetes mellitus -- cerebellar ataxia: A very rare condition characterized by rapidly progressive diabetes, kidney disease and cerebellar ataxia. Symptoms develop during the first five years.
  • Rheumatoid arthritis: An autoimmune inflammatory condition which primarily affects the joints
  • Rickets: A condition that affects the bones due to vitamin D deficiency
  • Robinow Syndrome: An extremely rare genetic disorder characterized by dwarfism and facial abnormalities
  • Rokitansky-Kuster-Hauser syndrome: A rare condition characterized by absence of the vagina and uterine abnormalities.
  • Roy-Maroteaux-Kremp syndrome: A very rare syndrome characterized mainly by skin lesions abnormal bone development and spastic paraplegia.
  • SCARF syndrome: A rare syndrome characterized mainly by skeletal abnormalities, loose skin, premature fusion of skull bones, ambiguous genitalia, psychomotor retardation and facial abnormalities.
  • Sarcoidosis: Rare autoimmune disease usually affecting the lungs.
  • Sarrouy disease: A disease characterized mainly by anemia, poor growth and enlarged liver and spleen. The disease usually ends with death.
  • Short stature, Brussels type: A very rare syndrome characterized mainly by short stature.
  • Sickle Cell Anemia: Sickle cell anemia is an inherited blood disorder characterized by red blood cells which are crescent-shaped rather than the normal doughnut shape. These abnormally shaped red blood cells are unable to function normally and tend to undergo premature destruction which leads to anemia. If the genetic defect which causes the condition is inherited from both parents the condition can be quite severe whereas if it is inherited from only one parent, often there are no symptoms. The abnormally shaped red blood cells can cause problems when they clump together and block blood vessels.
  • Skeletal dysplasia -- coarse facies -- mental retardation: A very rare syndrome characterized by a coarse face, mental retardation and skeletal abnormalities.
  • Skeletal symptoms: Symptoms affecting the skeletal system such as the bones.
  • Slavotinek hurst syndrome: A very rare inherited syndrome characterized mainly by cataracts, short stature, learning difficulties, skeletal abnormalities and a motor system disorder.
  • Slavotinek-Pike-Mills-Hurst syndrome: A very rare inherited syndrome characterized mainly by cataracts, short stature, learning difficulties, skeletal abnormalities and a motor system disorder.
  • Smoking: The smoking of cigarettes
  • Spastic paraplegia 9, autosomal dominant: A rare disorder characterized by muscle wasting and weakness mainly in the legs, short stature, skeletal abnormalities and cataracts.
  • 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.
  • Spinal muscular atrophy, Ryukyuan type: A recessively inherited disorder occurring in males from a Japanese inhabitants of Ryukyu Islands. The disorder is characterized by muscle wasting and weakness that affects the lower legs more than the arms.
  • Sulfatidosis juvenile, Austin type: A very rare metabolic disorder where all the sulfatase enzymes are impaired resulting in a variety of physical and developmental abnormalities.
  • Swelling symptoms: Symptoms causing swelling or enlargement.
  • Swollen bone: Enlarged, swollen, or misshapen bones
  • Syphilis -- Teratogenic Agent: There is strong evidence to indicate that the development of Syphilis during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the stage of pregnancy that the exposure occurred at.
  • Systemic lupus erythematosus: chronic autoimmune disease that can be fatal, though with recent medical advances, fatalities are becoming increasingly rare.
  • TDO type II: A rare genetic ectodermal disorder characterized by kinky hair, tooth enamel and bone abnormalities and differs from type I mainly by a small head and increased long bone density.
  • Thyroid disease: Any medical condition which affects the thyroid
  • Toni-Fanconi syndrome type 1:
  • Tricho-dento-osseous syndrome: A rare genetic disorder characterized by kinky hair, tooth enamel and bone abnormalities. There are two different subtypes with type I being distinguished from type II by the presence of a small head and increased density in the long bones.
  • Tricho-dento-osseous syndrome II:
  • Tricho-dento-osseous syndrome type:
  • Tricho-dento-osseous syndrome type I: A rare genetic ectodermal disorder characterized by kinky hair, tooth enamel and bone abnormalities.
  • Trichorhinophalangeal Syndrome Type III:
  • Trichorhinophalangeal syndrome type 3: A rare inherited disorder involving hair, face, teeth, and bone abnormalities. The type and severity of symptoms is variable.
  • Trisomy 10 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 10 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
  • Trisomy 18 mosaicism: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18 in only some of the body's cells. It is a less severe form of Edwards syndrome - the most severe form involves and extra copy of chromosome 18 in all of the body's cells. The severity of the condition is highly variable depending on how many of the body's cells are involved.
  • Trisomy 4 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 4 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
  • Turner Syndrome: Rare chromosome syndrome with one X but no second X or Y chromosome.
  • Uniparental disomy: Getting both of a chromosome pair from one parent
  • Uniparental disomy 13: A condition which is characterised by the uniparental disomy of chromosome 13
  • Uniparental disomy of 11: A condition which is characterised by the uniparental disomy of chromosome 11
  • Uniparental disomy of 13: A condition which is characterized by the uniparental disomy of chromosome 13. This means that the patient receives two copies of chromosome 13 from one parent instead of one copy from each parent. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
  • Uniparental disomy of 2: A condition which is characterised by the uniparental disomy of chromosome 2
  • Uniparental disomy of 6: A condition which is characterised by the uniparental disomy of chromosome 6
  • Uniparental disomy, paternal, chromosome 14: A condition which is characterised by the uniparental disomy of chromosome 14
  • Vitamin D deficiency: Deficiency of vitamin D
  • Vitamin K deficiency: Deficiency of vitamin K
  • Wildervanck syndrome: A rare birth disorder involving hearing loss, fusion of vertebrae and eye movement abnormalities/
  • Wilson's disease: Wilson disease, or hepatolenticular degeneration, is a neurodegenerative disease of copper metabolism.

Conditions listing medical symptoms: Bone changes:

The following list of conditions have 'Bone changes' or similar listed as a symptom in our database. This computer-generated list may be inaccurate or incomplete. Always seek prompt professional medical advice about the cause of any symptom.

Select from the following alphabetical view of conditions which include a symptom of Bone changes or choose View All.

View All A B C D E F G H I J K L M N O P R S T U V W

Conditions listing medical complications: Bone changes:

The following list of medical conditions have 'Bone changes' or similar listed as a medical complication in our database.

 

By using this site you agree to our Terms of Use. Information provided on this site is for informational purposes only; it is not intended as a substitute for advice from your own medical team. The information on this site is not to be used for diagnosing or treating any health concerns you may have - please contact your physician or health care professional for all your medical needs. Please see our Terms of Use.

Home | Symptoms | Diseases | Diagnosis | Videos | Tools | Forum | About Us | Terms of Use | Privacy Policy | Site Map | Advertise