Glossary for Osteoporosis

Medical terms related to Osteoporosis or mentioned in this section include:

• ACPS III: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
• 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.
• Achalasia - Addisonianism - Alacrimia syndrome: A rare inherited disorder characterized mainly by achalasia, alacrimia (absent tears) and Addison's disease. Addison's disease involves adrenal insufficiency due to a resistance to adrenocorticotropic hormone. Only about 70 cases reported worldwide.
• Achalasia - addisonianism - alacrima syndrome: A rare inherited disorder characterized mainly by achalasia, alacrimia (absent tears) and Addison's disease. Addison's disease involves adrenal insufficiency due to a resistance to adrenocorticotropic hormone. Only about 70 cases reported worldwide.
• Acrocephalopolydactyly - Cardiac Disease - Ear, Skin and Lower Limb Defects: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
• Acrocephalopolysyndactyly type III: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
• Acroosteolysis neurogenic: A very rare inherited condition characterized mainly by the loss of all sensations - the lose the ability to feel pain, temperature and touch. The loss of sensation generally starts at the toes and fingers and spreads up the limbs and the trunk may also be involved in some cases.
• Adrenal Cancer: A malignant cancer that develops in the adrenal gland. The tumor may be nonfunctioning (does not produce hormones) or functioning in which case excessive levels of hormones can cause a variety of symptoms depending on which hormone is involved. Adrenal hormones made in the cortex (outer part of the gland) are aldosterone, corticosteroids and androgenic steroids. Adrenalin and noradrenalin are the hormones made in the medulla (central part of the adrenal gland).
• Adrenal Cortex Diseases: Diseases of the adrenal cortex. Examples includes Addison's disease, Cushing's syndrome and adrenal fatigue.
• Adrenal Cortex Neoplasms: A tumor that develops in the adrenal gland. The tumor may be nonfunctioning (does not produce hormones) or functioning in which case excessive levels of hormones can cause a variety of symptoms depending on which hormone is involved. Adrenal hormones made in the cortex (outer part of the gland) are aldosterone, corticosteroids and androgenic steroids.
• Adrenal adenoma, familial: A benign tumor that develops in the adrenal gland and tends to run in families. The tumor may be nonfunctioning (does not produce hormones) or functioning in which case excessive levels of hormones can cause a variety of symptoms depending on which hormone is involved. Adrenal hormones made in the cortex (outer part of the gland) are aldosterone, corticosteroids and androgenic steroids . Adrenalin and noradrenalin are the hormones made in the medulla (central part of the adrenal gland).
• Adrenal gland hyperfunction: Excessive activity of the adrenal gland which causes excessive production of one or more adrenal hormones (aldosterone, corticosteroids, androgenic steroids, epinephrine and norepinephrine). The increased adrenal gland activity may be caused by an adrenal gland tumor or by excessive stimulation of the gland. Pituitary hormones stimulate adrenal gland activity.
• Adrenal incidentaloma: A tumor of the adrenal gland that is discovered incidentally while performing an imaging examination for reasons other than an adrenal tumor. The tumor may be asymptomatic or can causes excessive secretion of adrenal hormones and resulting symptoms. The tumor may also be malignant or benign.
• Adrenocortical carcinoma: A condition which is characterized by malignancy which affects the adrenocortex.
• Adult Cystic Fibrosis: Cystic fibrosis is an inherited condition characterized by the production of thick sticky mucus by the mucus glands in the lungs, intestines, liver and pancreas. The condition is most often diagnosed in children or young adults but occasionally, relatively mild symptoms may lead to frequent misdiagnosis or no diagnosis at all unless the symptoms become worse. The condition may be misdiagnosed as emphysema, asthma or chronic bronchitis. It is usually females with a mild form of the disease who tend to be diagnosed at a later age.
• Aging: The medical conditions from getting older.
• 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.
• Alpha thalassemia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called ? and ?. Alpha thalassemia involves defects in one or more of the four genes required to make each ? protein chain. The main symptom is anemia, the severity of which can vary amongst patients depending on how many defective genes are involved.
• Alpha thalassemia - Hemoglobin H disease: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called ? and ?. Hemoglobin H disease involves defects in three of the four genes required to make each ? protein chain. The main symptom is moderate to severe anemia.
• Alpha thalassemia major: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called ? and ?. Alpha thalassemia major is very rare involves defects in all of the four genes required to make each ? protein chain. The condition leads to infant death before or soon after birth.
• Andropause: A symptomatic decline in male androgens that may occur as men age.
• Anemia, Blackfan Diamond: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. The severity of symptoms is variable but most cases are serious.
• 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.
• Anorexia Nervosa: A disorder where a distorted sense of body image leads to self-starvation to the point of death in some cases.
• Aromatase deficiency: A congenital deficiency of the enzyme called aromatase which is needed to convert androgens to estrogens.
• Arthrogryposis multiplex congenita - pulmonary hypoplasia: A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems.
• Aspartylglucosaminidase deficiency: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
• Aspartylglucosaminuria: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
• Aspartylglycosaminuria: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
• Aural atresia - multiple congenital anomalies - mental retardation: A rare syndrome characterized by a number of malformations as well as mental retardation.
• Autoimmune thyroid disease associated Celiac Disease: Patients with autoimmune thyroid disease are more susceptible to developing celiac disease than the average population. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Beta Thalassemia intermedia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. There are two subtypes of the disorder (? and ?) depending on what portion of the hemoglobin is abnormally synthesized. Beta Thalassemia intermedia involves defects in both of the two genes required to make each ? protein chain. The condition causes varying degrees of moderate anemia.
• Beta thalassemia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called ? and ?. Beta thalassemia involves defects in one or more of the two genes required to make each ? protein chain. The main symptom is anemia, the severity of which can vary amongst patients depending on how many defective genes are involved.
• Biliary cirrhosis: Biliary cirrhosis is a condition where the bile ducts are unable to transport bile effectively due to blockage, inflammation, scarring or some other damage to the bile ducts. The condition may result from such things as congenital defect of the bile ducts (e.g. biliary atresia), cystic fibrosis, gallstones or a variety of other secondary conditions. The cause of primary biliary cirrhosis is not fully understood.
• Bone pain: Pain affecting the bones
• Bone symptoms: Symptoms affecting the body's bones
• Boyd-Stearns syndrome: A rare syndrome associated with various metabolic disorders such as glycosuria, acidosis, albuminuria and hypochloremia. Symptoms include rickets during infancy, short stature, low blood phosphate levels, malnutrition and osteoporosis.
• Brachydactylous dwarfism, Mseleni type: A very rare syndrome characterized primarily by progressive joint disease, short stature and short fingers and toes. The joint disease affects mainly the hips, knees, ankles and spine. The condition can eventually lead to disability and hip and/or knee replacements in serious cases.
• Brachydactyly - tibial hypoplasia: A rare syndrome characterized by short digits and an underdeveloped or absent shin bone.
• Bronchopulmonary dysplasia: A condition which is characterized by dysplasia of the brochopulmonary vessels
• Brown-Sequard Syndrome: A disorder where spinal cord compression and lesions involve only half of the spinal cord.
• Cantu Sanchez-Corona Garcia-cruz syndrome: A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and various other abnormalities.
• Cantú syndrome: A rare syndrome characterized mainly by excessive growth of hair, enlarged heart and abnormal development of bone and cartilage
• Celiac Disease: Digestive intolerance to gluten in the diet.
• 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.
• Chemical poisoning - White Phosphorus: White Phosphorus is a chemical used mainly in fertilizers, water treatment, rodenticides and insecticides (for cockroaches). Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Cholestasis: A condition where bile formation or flow is reduced.
• Cholestyramine - Teratogenic Agent: There is evidence to indicate that exposure to Cholestyramine (cholesterol-lowering drug) 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.
• Chromosome 1, deletion q21 q25: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as retarded fetal growth, osteoporosis, facial anomalies and hearing loss.
• Collagenous celiac disease: Collagenous celiac disease is used to describe progressive celiac disease characterized by the presence of a layer of collagen (scarring) in the intestinal layers. This form of celiac disease usually fails to respond to treatments such as gluten-free diets. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The condition usually fails to respond to treatment and has a poor prognosis.
• Congenital Disorders of Glycosylation Type Ia: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
• 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-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.
• Davis syndrome: A very rare condition where short-limbed dwarfism is associated with immunodeficiency.
• Del(1) (23-q25): A very rare chromosomal disorder where a portion of the long arm (23q-q25) of chromosome one is missing.
• Diamond-Blackfan anemia: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. The severity of symptoms is variable but most cases are serious.
• Dibasic aminoaciduria 2: A rare condition where protein intolerance occurs as a result of a defect in the transport of dibasic amino acids through the intestines and kidneys. The amino acids (component of protein) can't be broken down properly and used by the body so it builds up and causes damage.
• Down's syndrome associated Celiac Disease: Patients with Down's syndrome have a high degree of susceptibility to developing celiac disease. Up to 17% of Down's syndrome sufferers develop celiac disease but this rate varies amongst age groups and country of origin. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Dyskeratosis Congenita: A rare genetic disorder characterized by sking pigmentation abnormalities, nail dystrophy and mucous membrane changes.
• Eating symptoms: Symptoms related to eating.
• Eccentrochondrodysplasia: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of certain enzymes needed to break it down.
• Ehlers-Danlos syndrome, progeroid form: A connective tissue disorder caused by an enzyme (xylosylprotein 4-beta-galactosyl transferase) deficiency.
• Ethanol - Teratogenic Agent: There is evidence to indicate that exposure to Ethanol 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.
• Excessive dieting: Excessive limitation of food intake can lead to problems and effects such as dizziness, depression, intestinal problems, edema and impaired growth.
• Fabry's Disease: An inherited metabolic disorder where phospholipids are deposited mostly in the blood vessels as well as other tissues and organs. Symptoms include skin lesions, small red spots on the abdomen, thighs and scrotum, fever, peripheral edema, hypertension and renal failure. Also called angiokeratoma corporis diffusion, Anderson's syndrome, Anderson-Fabry disease, Morbus Anderson-Fabry, Ruiter-Pompen syndrome or Sweeley-Klionsky disease.
• Fanconi-Albertini-Zellweger syndrome: A rare syndrome characterized mainly by congenital heart defect, brain abnormalities, unusual face and metabolic acidosis.
• Fanconi-ichthyosis-dysmorphism: A very rare syndrome characterized by scaly skin (ichthyosis), anemia, muscle anomalies and various other abnormalities. All six reported cases died within 6 months.
• Fontaine-Farriaux-Blanckaert syndrome: A rare syndrome characterized by premature fusion of skull bones as well as various other abnormalities.
• Fractures: Breakage of bones
• Functioning pancreatic endocrine tumor: Tumors that develop in the pancreas and cause excessive secretion of one or more pancreatic hormones such as insulin, somatostatin, glucagons, gastrin, ACTH (corticosteroids) and vasoactive intestinal peptidase.
• Galactorrhoea-Hyperprolactinaemia: Increased blood prolactin levels associated with galactorrhea (abnormal milk secretion). It may be caused by such things as certain medications, pituitary disorders and thyroid disorders. The condition can occur in males as well as females.
• 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.
• Global developmental delay - osteopenia - ectodermal defect: A rare syndrome characterized by developmental delay, osteopenia and skin anomalies.
• Gnathodiaphyseal dysplasia: A rare genetic disorder affecting the skeleton and characterized by fragile bones, bowed long bones and recurring infections of the jaw bone.
• Gonadal dysgenesis: The abnormal development of gonads which means that the sex hormones are not being produced. The gonads are the primary reproductive organs - testes in males and ovaries in females. These organs produced sperm and eggs as well as sex hormones - testes produce the male hormone called testosterone and ovaries produce the female hormone called estrogen. Abnormal gonad development and hence lack of sex hormones can affect sexual differentiation between males and females and puberty may be delayed or fail to occur altogether.
• Gorham's syndrome: A very rare bone disorder involving bone loss which can occur in one or more bones.
• 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.
• Hajdu-Cheney Syndrome: A rare genetic disorder characterized by early tooth loss, relaxed joints, small stature and bone abnormalities.
• Hallermann-Streiff Syndrome: A condition which affects stature, head shape and hair growth
• Hapnes-Boman-Skeie syndrome: A rare disorder where the abnormal attachment of tendons in the fingers prevents them from opening and closing normally.
• Heparin - Teratogenic Agent: There is evidence to indicate that exposure to Heparin (an anticoagulant drug) 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.
• High Blood Iron: Where a patient has an elevated iron content of their blood
• Hip symptoms: Symptoms affecting the hip 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 cystathionine beta-synthase deficiency: A rare genetic biochemical disorder where a deficiency of cystathionine beta-synthase results in high levels of methionine and homocysteine in the blood and reduced levels of cyteine in the blood. There are two subtypes of the disorder with varying manifestations. One type responds to Vitmain B6 supplementation and the other doesn't. Those who do respond to Vitamin B6 tend to have milder manifestations.
• Hutchinson Gilford Syndrome: A rare genetic disorder characterized by alopecia and senile-like appearance.
• Hyalinosis, infantile systemic: A rare genetic disorder involving abnormal deposits of hyaline throughout various body tissues. Manifestations include progressive joint contractures, skin abnormalities and pain.
• Hyper IgE: Inherited immunodeficiency disorders involving excessive production of IgE and frequent bacterial (staphylococcal) infections mainly involving the skin as well as other problems. Recessively inherited forms of the condition tend to be more serious with bone problems.
• Hyperadrenalism: Excessive levels of adrenal hormones in the body. Symptoms depend on which hormone is involved and the degree of involvement. Adrenal hormones are aldosterone, corticosteroids, androgenic steroids, epinephrine and norepinephrine.
• 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).
• Hyperglycerolemia: A genetic condition where an enzyme deficiency (glycerol kinase) results in an accumulation of glycerol in the body as well as it's excretion through the urine.
• Hyperglycerolemia, infantile form: A genetic condition where an enzyme deficiency (glycerol kinase) results in an accumulation of glycerol in the body as well as it's excretion through the urine. The infantile form of the condition involves a deficiency of complex glycerol kinase and is associated with a variety of physical and developmental abnormalities.
• Hyperparathyroidism, primary: A rare genetic disorder where excessive activity of the parathyroid gland causes increased blood calcium levels which can cause various problems.
• Hyperprolactinemia: High levels of prolactin in the blood.
• Hyperthyroidism: The excessive activity of the thyroid gland
• Hypertrichotic osteochondrodysplasia: A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and various other abnormalities.
• Hypogonadotropic hypogonadism - syndactyly: A very rare syndrome characterized mainly by webbed toes and reduced gonad function.
• Immobility: An inability to mobilise as normal
• Immunodeficiency with short limb dwarfism: A very rare condition where short-limbed dwarfism is associated with immunodeficiency.
• Infantile multisystem inflammatory disease: A rare autoinflammatory disease characterized by fever, rash, arthritic changes, eye problems and chronic meningitis.
• Infantile sialic acid storage disorder: A rare inherited biochemical disorder characterized by the accumulation of sialic acid in the tissues and excretion of sialic acid in the urine. The disorder results in death within the first few years of life - usually in infancy.
• 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.
• Iridogoniodysgenesis and skeletal anomalies: A rare syndrome characterized by skeletal anomalies, congenital glaucoma and an unusual facial appearance.
• Jacobsen syndrome: A very rare chromosomal disorder involving the absence of a portion of chromosome 11q. The range and severity of symptoms is determined by the size of the portion that is deleted.
• Job syndrome: An immunodeficiency disorder characterized by excessive production of IgE and frequent bacterial infections mainly involving the skin.
• Juvenile Paget disease: A rare genetic bone disorder involving abnormal loss of bone mineralization and remineralization, broadened bone shafts and high levels of alkaline phosphatase in the blood. Some juvenile cases are relatively mild.
• Kaler-Garrity-Stern syndrome: A very rare syndrome characterized mainly by osteopenia, mental retardation and sparse hair.
• Kidney conditions: Any condition affecting the kidney organs.
• Kidney symptoms: Symptoms affecting one or both kidneys.
• Kniest dysplasia: A rare genetic bone growth disorder characterized by dwarfism, enlarged joints and facial deformities.
• Lactotroph adenoma: A benign pituitary tumor that secretes excessive prolactin which can affect the functioning of the reproductive system - testes and ovaries. The tumor may also grow large enough to compress adjacent structures such as the eye nerves.
• 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.
• Larsen syndrome, recessive type: A congenital, genetic disorder characterized by many abnormalities including joint dislocations, bone abnormalities and an unusual face.
• Larsen-like osseous dysplasia - dwarfism: A very rare syndrome characterized mainly by bone abnormalities, joint dislocations, unusual facial appearance and dwarfism.
• Lawrence-Seip syndrome: Lawrence-Seip syndrome is a relatively uncommon condition involving generalized loss of skin fat that is acquired rather than congenital as in Berardinelli-Seip Syndrome. Patients can also develop diabetes mellitus and other problems. The loss of skin fat tends to occur during childhood or adolescence and is often triggered by infections such as measles and hepatitis. The diabetes tends to occur after fat loss begins. The limbs and face tend to be the most affected.
• Leukemia, mast-cell: A very aggressive form of leukemia - a subtype of acute myeloid leukemia. The cancer can in rare cases develop from chronic myeloid leukemia or systemic mastocytosis but generally develops on its own.
• Lichstenstein syndrome: A rare syndrome characterized mainly by frequent infections, osteoporosis, weak bones and other bone abnormalities.
• Liver symptoms: Symptoms affecting the liver
• 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.
• Lockwood-Feingold syndrome: A rare genetic disorder characterized mainly by arthritis, skeletal abnormalities and a lack of subcutaneous fat.
• Lysinuric protein intolerance: A rare inborn urea cycle disorder characterized by an enzyme defect in the amino acid transporter gene SLC7A7 (positive amino acid transporter).
• Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance: A rare disorder characterized by osteoporosis, wrinkled skin, aged appearance and abnormal bone development.
• Marie-Bamberg syndrome: A rare condition characterized by clubbing of fingers and toes, excessive sweating and development of fibrous tissue around the ends of bones. The condition is a form of hypertrophic osteoarthropathy that occurs secondary to other conditions such as cardiopulmonary disease and certain cancers.
• Mastocytosis: A disorder where excessive amounts of mast cells proliferate in organs such as the skin, liver, bone, spleen and gastrointestinal tract. Mast cells occur in connective tissue and defend the body against disease by releasing histamine to stimulate the immune system.
• Menkes Disease: Genetic disease of copper deficiency.
• 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.
• Mental retardation, Buenos Aires type: A very rare syndrome characterized mainly by mental retardation, physical retardation, unusual facial appearance and heart and kidney defects.
• Metaphyseal chondrodysplasia Spahr type: A rare genetic bone development disorder characterized mainly by bowed legs.
• Metaphyseal dysplasia - maxillary hypoplasia - brachydactyly: A very rare syndrome characterized mainly by short fingers, underdeveloped upper jaw and bone abnormalities involving the cone-shaped portion near the end of the bones where growth occurs.
• Metaphyseal dysplasia Pyle type: A rare genetic disorder characterized by bone deformities involving the limbs, skull and other parts of the skeleton.
• Methylmalonic acidemia, Cobalamin B deficiency: An inherited organic acid disorder where an enzyme deficiency (Cobalamin B deficiency) impairs the body's ability to break down certain proteins (methionine, threonine, isoleucine and valine) consumed in the diet. This results in a buildup of glycine and methylmalonic acid which results in harmful affects.
• Methylmalonic acidemia, Methylmalonyl CoA mutase deficiency: An inherited organic acid disorder where an enzyme (Methylmalonyl CoA mutase apoenzyme) deficiency impairs the body's ability to break down certain proteins (methionine, threonine, isoleucine and valine) consumed in the diet. This results in a buildup of glycine and methylmalonic acid which results in harmful affects.
• Methylmalonic acidemia, cobalamin A deficiency: An inherited organic acid disorder where an enzyme deficiency (Cobalamin A deficiency) impairs the body's ability to break down certain proteins (methionine, threonine, isoleucine and valine) consumed in the diet. This results in a buildup of glycine and methylmalonic acid which results in harmful affects.
• Methylmalonic acidemia, methylmalonyl CoA racemase deficiency: An inherited organic acid disorder where an enzyme (methylmalonyl CoA racemase) deficiency impairs the body's ability to break down certain proteins (methionine, threonine, isoleucine and valine) consumed in the diet. This results in a buildup of glycine and methylmalonic acid which results in harmful affects.
• Microcephaly - mental retardation - retinopathy: A very rare syndrome characterized mainly by a small head, mental retardation and retinal disease.
• Mixed connective tissue disease: A rare disorder of the connective tissue which affects a range of body tissues and organs.
• Morquio syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (galactosamine-?-sulfate - type A, ? galactosidase - type B) needed to break it down. The symptoms are variable with type A and B being clinically indistinguishable.
• Morquio syndrome type A: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (galactosamine-?-sulfate) needed to break it down.
• Morquio syndrome, type B: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (? galactosidase) needed to break it down.
• Multicentric osteolysis - nodulosis - arthropathy: A rare syndrome characterized by joint disease, loss of bone mineral density and nodulosis.
• Myeloma: A primary malignancy of the plasma cells
• NOMID syndrome: A rare autoinflammatory disease characterized by fever, rash, arthritic changes, eye problems and chronic meningitis.
• Neuritis: Inflammation of a nerve.
• Nodulosis-arthropathy-osteolysis syndrome: A rare syndrome characterized by joint disease, loss of bone mineral density and nodulosis.
• Nonkeratan-sulfate-excreting Morquio syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of certain enzymes needed to break it down. This disorder is distinguished form other similar conditions by the fact that no keratosulfate is excreted in the urine.
• 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.
• 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.
• 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.
• Osteochondrodysplatic dwarfism - deafness - retinitis pigmentosa: A rare syndrome characterized by extreme dwarfism, deafness, progressive scoliosis and retinal pigment anomalies.
• Osteogenesis imperfecta, type 6: A rare form of the genetic connective tissue disorder characterized by fragile bones and light-colored eyes. There are a number of types of osteogenesis imperfecta and type 6 is considered a moderate to severe form.
• Osteogenesis imperfecta, type 7: A rare connective tissue disorder characterized by fragile bones. Type VII is a severe form of the condition which is recessively inherited.
• Osteolysis hereditary multicentric: A very rare skeletal disorder characterized by bone loss in the hand and foot bones (carpals and tarsals) as well as abnormalities involving the long bones and digits.
• Osteopaenia - myopia - hearing loss - intellectual deficit - facial dysmorphism: A rare syndrome characterized mainly by osteopenia, myopia, hearing loss, mental retardation and an unusual facial appearance.
• Osteopenia: A condition which is characterized by reduced bone mass
• Osteoporosis - macrocephaly - blindness - joint hyperlaxity: A very rare syndrome characterized mainly by mental retardation, osteoporosis, blindness and a large head.
• Osteoporosis - macrocephaly - mental retardation - blindness: A very rare syndrome characterized mainly by mental retardation, osteoporosis, blindness and a large head.
• Osteoporosis - oculocutaneous - hypopigmentation syndrome: A very rare syndrome characterized mainly by osteoporosis and reduced skin and eye pigmentation.
• Osteoporosis-pseudoglioma syndrome: A rare genetic disorder characterized by early onset of osteoporosis (during childhood) and loss of vision resulting from retinal detachment due to a retinal pseudoglioma (inflammatory eye condition).
• Otospondylomegaepiphyseal dysplasia: A rare genetic disorder where abnormal bone growth causes hearing loss, skeletal abnormalities and characteristic facial features.
• Ovarian insufficiency due to FSH resistance: A rare disorder where the ovaries fail to function normally as they are unable to respond to follicle stimulating hormones.
• Ovarian insufficiency, familial: A rare inherited disorder where the ovaries fail to function normally despite normal levels of hormones that stimulate ovarian activity. Ovarian failure is a normal phase of aging and is associated with menopause but it is termed ovarian insufficiency when it occurs in a female under the age of 40.
• Oxalosis: A rare inherited metabolic disorder where excess oxalic acid forms crystals which make up urinary stones. In type I primary hyperoxaluria there is a deficiency of peroxisomal alanine-glyoxalate aminotransferase and type II involves a deficiency of the enzyme glyoxylate reductase/hydroxypyruvate reductase.
• Oxalosis, Type II: A rare inherited metabolic disorder where excess oxalic acid forms crystals which make up urinary stones. In type I primary hyperoxaluria there is a deficiency of the enzyme glyoxylate reductase/hydroxypyruvate reductase.
• Oxalosis, type I: A rare inherited metabolic disorder where excess oxalic acid forms crystals which make up urinary stones. In type I primary hyperoxaluria there is a deficiency of alanine-glyoxalate aminotransferase.
• Paget disease juvenile type: A rare genetic bone disorder involving abnormal loss of bone mineralization and remineralization, broadened bone shafts and high levels of alkaline phosphatase in the blood. Some juvenile cases are relatively mild.
• 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, recessive, acute infantile: A severe form of the degenerative brain disease involving deterioration of the brain white matter and resulting in impaired motor and mental functioning.
• Pena Shokeir syndrome, type 1: A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems.
• Pena-Shokeir syndrome Type 2: A rare progressive congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities as well as eye abnormalities.
• Peroxisomal bifunctional enzyme deficiency: A rare disorder involving abnormal steroid metabolism due to an enzyme 17-beta-hydroxysteroid dehydrogenase 4) deficiency. The symptoms which make the condition appear very similar to another condition called neonatal adrenoleukodystrophy.
• Pointer syndrome: A rare syndrome characterized mainly by skeletal abnormalities, permanently flexed fingers, facial anomalies and feeding problems.
• Prader-Willi syndrome: A rare genetic disorder characterized by reduced muscle tone, obesity and small hands and feet.
• Prednisolone - Teratogenic Agent: There is evidence to indicate that exposure to Prednisolone 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.
• Pregnancy symptoms: Symptoms related to pregnancy.
• Premature aging: Early appearance of the signs of aging before old age
• Premature aging, Okamoto type: A form of premature aging.
• Primary biliary cirrhosis: Primary biliary cirrhosis is a chronic and progressive cholestatic disease of the liver.
• 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 hyperoxaluria type 2: 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 2 involves a deficiency of a liver enzyme called D-Glycerate Dehydrogenase. Type 2 tends to cause a milder disease than type 1 with better longterm outcomes.
• 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.
• Prolactinoma: Benign cancer of the pituitary gland producing prolactin.
• Prolactinoma, familial: A pituitary tumor that secretes prolactin and occurs in a familial pattern of inheritance. The tumor is benign but can cause symptoms due to high prolactin levels or compression of the optic nerve.
• Prolidase deficiency: A rare metabolic disorder where an enzyme (prolidase) deficiency impairs the breakdown of certain proteins which causes a harmful buildup in the body. The type and severity of symptoms are variable and may include skin disorders, retarded motor development, impaired cognitive development, frequent infections and skeletal abnormalities.
• Proximal tubulopathy - diabetes mellitus - cerebellar ataxia: A very rare syndrome characterized mainly by diabetes, movement disorder and kidney abnormality. Death often occurs during childhood.
• Pseudoprogeria syndrome: A very rare syndrome characterized mainly by absent eyelashes and eyebrows as well a mental retardation.
• Psychiatric disorders associated Celiac Disease: Patients with Psychiatric disorders are more susceptible to developing celiac disease than the average population. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Pure red cell aplasia, congenital: A rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. The severity of symptoms is variable but most cases are serious.
• Rajab-Spranger syndrome: A rare syndrome characterized mainly by a skin fat disorder, mental retardation and deafnes.
• Reflex sympathetic dystrophy syndrome: A condition characterized by pain and reduced range of motion in the shoulder and hand of the affected arm.
• Refractory Celiac Disease: Refractory Celiac Disease is celiac disease that fails to respond to treatment which involves a gluten-free diet. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The condition is quite uncommon and often the resulting poor absorption of nutrients from the intestines leads to a poor prognosis.
• Renal osteodystrophy: Lack of bone mineralization due to kidney disease.
• 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.
• Richieri-Costa Da Silva syndrome: A very rare syndrome characterized mainly by mental retardation, skeletal anomalies and delayed muscle relaxation.
• Riley Shwachman syndrome: A rare condition involving bone changes and exaggerated reflexes.
• Sakati syndrome: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
• Sarcoidosis: Rare autoimmune disease usually affecting the lungs.
• Schwartz-Jampel Syndrome: A rare genetic disorder characterized by myotonia, blepharophimosis and joint limitation.
• Secondary Biliary Cirrhosis: Secondary biliary cirrhosis is a condition where the bile ducts are unable to transport bile effectively due to a secondary cause which results in blockage, inflammation, scarring or some other damage to the bile ducts. The condition may result from such things as congenital defect of the bile ducts (e.g. biliary atresia), cystic fibrosis, gallstones or a variety of other secondary conditions.
• Short stature - hyperkaliemia - acidosis: A very rare syndrome characterized mainly by short stature and metabolic abnormality.
• Shprintzen-Golberg craniosynostosis: A very rare syndrome characterized by premature fusion of skull bones and a Marfanoid appearance, skeletal anomalies and learning problems.
• Singleton-Merten Syndrome: A very rare disorder involving calcium abnormalities which affect the teeth, bones and blood vessels.
• Small bowel bacterial overgrowth syndrome: The small bowel is a part of the digestive system. A healthy small bowel contains some bacteria but in bacterial overgrowth syndrome, there are an excessive number of bacteria. Abnormal small bowel muscle function is often associated with conditions such as intestinal motility problems due to neurological diseases and muscular diseases, diabetes mellitus, small intestine obstruction and diverticulitis. It may also be caused by certain medications and abdominal surgeries.
• Snyder-Robinson syndrome: A rare syndrome characterized by mental retardation, reduced muscle tone, abnormal walk, weak bones and an asymmetrical face.
• Spinal muscular atrophy, type I, with congenital bone fractures: A group of inherited motor neuron diseases involving progressive muscle weakness and wasting due to degeneration of motor neurons in the spinal cord. Bone fractures also occur in newborn infants.
• Spinocerebellar ataxia - dysmorphism: A rare inherited syndrome characterized by ataxia and unusual facial appearance.
• Spinocerebellar ataxia-dysmorphism syndrome: A rare genetic disorder characterized by characteristic facial anomalies, ataxia, delayed psychomotor development and various skeletal deformities.
• Sponastrime dysplasia: A rare genetic disorder involving severe skeletal changes that results in short limbs, dwarfism and spinal and facial bone abnormalities.
• Spondylo-ocular syndrome: A rare, recessively inherited syndrome characterized mainly by eye and spinal abnormalities.
• Spondyloepimetaphyseal dysplasia with multiple dislocations: A very rare syndrome characterized by abnormal bone growth and multiple joint dislocations.
• Spondylometaphyseal dysplasia with dentinogenesis imperfecta: A rare skeletal disorder involving abnormal bone development. The condition is characterized by abnormal growth of long bones, loose joints and tooth enamel abnormalities. The shortness in the arms and legs occurs mainly in the middle bones such as the forearm and lower leg bones.
• Storm syndrome: A rare progressive genetic disorder characterized by premature aging and heart disease which results in premature death.
• Stuve-Wiedemann dysplasia: A rare syndrome characterized mainly by short stature, bowed long bones and permanent flexion of fingers.
• Stuve-Wiedemann syndrome: A rare syndrome characterized mainly by short stature, bowed long bones and permanent flexion of fingers.
• 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.
• Susceptibility to Celiac Disease 1: Susceptibility to celiac disease 1 is a term allocated to a genetic defect on a particular chromosome (chromosome 6p21.3) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Susceptibility to Celiac Disease 10: Susceptibility to celiac disease 10 is a term allocated to a genetic defect on a particular chromosome (chromosome 3q25-q26) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Susceptibility to Celiac Disease 11: Susceptibility to celiac disease 11 is a term allocated to a genetic defect on a particular chromosome (chromosome 3q28) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Susceptibility to Celiac Disease 12: Susceptibility to celiac disease 12 is a term allocated to a genetic defect on a particular chromosome (chromosome 6q25) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Susceptibility to Celiac Disease 13: Susceptibility to celiac disease 13 is a term allocated to a genetic defect on a particular chromosome (chromosome 12q24) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Susceptibility to Celiac Disease 2: Susceptibility to celiac disease 2 is a term allocated to a genetic defect on a particular chromosome (chromosome 5q31-q33) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Susceptibility to Celiac Disease 3: Susceptibility to celiac disease 3 is a term allocated to a genetic defect on a particular chromosome (chromosome 2q33) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Susceptibility to Celiac Disease 4: Susceptibility to celiac disease 4 is a term allocated to a genetic defect on a particular chromosome (chromosome 19p13.1) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Susceptibility to Celiac Disease 5: Susceptibility to celiac disease 5 is a term allocated to a genetic defect on a particular chromosome (chromosome 15q11-q13) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Susceptibility to Celiac Disease 6: Susceptibility to celiac disease 6 is a term allocated to a genetic defect on a particular chromosome (chromosome 4q27) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Susceptibility to Celiac Disease 7: Susceptibility to celiac disease 7 is a term allocated to a genetic defect on a particular chromosome (chromosome 1q133) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Susceptibility to Celiac Disease 8: Susceptibility to celiac disease 8 is a term allocated to a genetic defect on a particular chromosome (chromosome 2q11-q12) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Susceptibility to Celiac Disease 9: Susceptibility to celiac disease 9 is a term allocated to a genetic defect on a particular chromosome (chromosome 3p21) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Thick skull syndrome: An inherited bone condition where the skull bones become abnormally thick and trap some of the skull nerves.
• Thinness: Underweight and thin
• Tricho-hepato-enteric syndrome: A very rare syndrome characterized mainly by hair and liver abnormalities as well as severe diarrhea that usually starts in early infancy and can lead to death.
• Tuberous sclerosis: A rare genetic disorder characterized by harmartomatous skin nodules, seizures, phakomata and bone lesions.
• Turner syndrome associated Celiac Disease: Females with Turner syndrome are more susceptible to developing celiac disease than the average population. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Type 1 diabetes related Celiac Disease: Patients with Type 1 diabetes are more susceptible to developing celiac disease than the average population. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Ulcerative colitis: Ulcerative colitis (Colitis ulcerosa, UC) is a form of inflammatory bowel disease (IBD). Ulcerative colitis is a form of colitis, a disease of the intestine, specifically the large intestine or colon, that includes characteristic ulcers, or open sores, in the colon.
• Urban rogers meyer syndrome: A rare syndrome characterized by mental retardation, short stature, hand contractures, genital anomalies and other abnormalities.
• Velocardiofacial syndrome: A genetic disorder which can present with a wide range of phenotypic manifestations which has lead to a number of different names being assigned to the various presentations e.g. DiGeorge Syndrome and Cayler Anomaly Face Syndrome. There are nearly 200 different symptoms that can occur and the severity of the condition is also highly variable depending on the nature and severity of the symptoms that are present.
• Weak bones: Weakening of the bones
• Werner syndrome: A form of premature aging where sufferers start aging during adolescence or soon after and appear old by the time they reach their 30's or 40's. Milder forms of the condition may also occur.
• William's syndrome associated Celiac Disease: Patients with William's syndrome are more susceptible to developing celiac disease than the average population. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Wilson's disease: Wilson disease, or hepatolenticular degeneration, is a neurodegenerative disease of copper metabolism.
• Winchester Syndrome: A very rare condition involving destruction of bone in the ankle, wrists and elbows as well as eye, teeth and joint abnormalities.
• Wolcott-Rallison syndrome: A very rare genetic condition characterized primarily by the onset of diabetes mellitus during infancy and epiphyseal dysplasia (abnormal joint development).
• Wolman syndrome: A form of lipoidosis where acid cholesteryl ester hydrolase deficiency causes an accumulation of lipids (particularly cholesterol esters and triglycerides) in tissues and organs.
• Wyburn Mason's syndrome: A rare genetic condition mainly involving enlarged brain blood vessels and skin and eye abnormalities.
• Xylosylprotein 4-beta-galactosyltransferase (XGPT) deficiency: A variant of the connective tissue disorder called Ehlers-Danlos. It is caused by a deficiency of galactosyltransferase I.

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