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Diseases » Rickets » Glossary
 

Glossary for Rickets

  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • Bone pain: Bone pain or tenderness is aching or other discomfort in one or more bones.
  • 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.
  • Chronic Kidney Disease: Long-term and generally irreversible disease of the kidneys due to infection, obstruction, congenital diseases or generalised diseases causing failure of the kidneys' normal functions.
  • Cystinosis: A rare biochemical disorder involving the accumulation of a chemical called cystine in various parts of the body which can cause harmful effects.
  • 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.
  • Ethotoin -- Teratogenic Agent: There is evidence to indicate that exposure to Ethotoin (an anticonvulsant 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.
  • 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.
  • Genu varum: The presence of bowed legs - knees are apart and ankles are together while standing. Causes of the anomaly include certain intrauterine positions, rickets and various bone disorders.
  • 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.
  • Hyperparathyroidism: Increased secretion of parathyroid hormone from the parathyroid glands.
  • Hypocalcaemia: Decreased concentration of calcium in the blood.
  • Hypocalcemia: Low levels of calcium in the blood
  • Hypophosphatasia: A rare genetic disorder characterized by short limbs, dwarfism and general lack of bone calcification.
  • Hypophosphatemia: Low blood phosphate levels. Causes include malnourishment, chronic alcoholism excessive carbohydrate consumption, malabsorption, phosphaturia, liver failure, respiratory alkalosis and certain genetic disorders.
  • 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.
  • 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.
  • Kidney disease: Reduced kidney function from various causes.
  • Lightwood-Albright syndrome: A rare syndrome caused by kidney dysfunction.
  • 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.
  • Malabsorption: Failure to digest nutrients properly
  • Malabsorption syndrome: is an alteration in the ability of the intestine to absorb nutrients adequately into the bloodstream
  • Manz syndrome: A rare inherited kidney disorder characterized low blood magnesium and high urine calcium levels as well as nystagmus.
  • 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.
  • Mental retardation -- dysmorphism -- hypogonadism -- diabetes: A very rare syndrome characterized mainly by mental retardation, hypogonadism, diabetes and facial and skull abnormalities.
  • Metastatic cancer: Any cancer that has spread to other parts of the body.
  • Multiple Myeloma: A rare malignant cancer that occurs in the bone marrow. More common in skull, spine, rib cage, pelvis and legs.
  • Myopathy: General name for any disease of the muscles.
  • 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.
  • 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.
  • Osteomalacia: A condition where the bones gradually soften and bend due to poor calcification stemming from a lack or impaired metabolism of vitamin D.
  • Osteoporosis: Bone thinning and weakening from bone calcium depletion.
  • Pathological fracture: The occurrence of a fracture a bone of the body caused by a disease state
  • Possible human carcinogenic exposure -- Phenytoin: Some evidence indicates that exposure to Phenytoin (an anticonvulsant medication) has a possible link to an increased risk of developing cancer in humans. The carcinogenicity of the substance may be influenced by the duration and level of exposure.
  • Proximal Renal Tubular Acidosis: This is a condition that is characterised by a metabolic acidosis state caused by impairment of a persons renal function
  • Proximal muscle weakness: Weakness of the proximal muscles
  • Pseudophosphatasia: A rare condition where infants have all the physical features of infantile hypophosphatasia but alkaline phosphatase activity is normal.
  • Renal Tubular Acidosis: A rare disorder where the kidneys secrete too much hydrogen and don't reabsorb enough bicarbonate which can result in symptoms such as excessive blood acidity and loss of potassium.
  • 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.
  • Rickets: A rare condition where a lack of Vitamin D results in bone disease as it is essential for the process of bone calcification.
  • Sarrouy disease: A disease characterized mainly by anemia, poor growth and enlarged liver and spleen. The disease usually ends with death.
  • Tetany: Sensation changes and muscle symptoms from low blood calcium
  • Toni-Fanconi syndrome type 1:
  • Vitamin D deficiency: Deficiency of vitamin D
  • Vitamin deficiency: When there is any deficiency of vitamins in the body
  • Wilson's Disease: Wilson disease, or hepatolenticular degeneration, is a neurodegenerative disease of copper metabolism.

 

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