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Diseases » Jacobs syndrome » Glossary
 

Glossary for Jacobs syndrome

  • 47 XYY syndrome: A genetic condition where males have an extra Y chromosome in each of their cells. Normally male cells have one X and one Y chromosome. This is not usually an inherited condition but a defect that occurs during cell division. Often the condition is asymptomatic.
  • Acne: Pimples and blackheads on the face and skin.
  • Aggression: Overly aggressive behavior.
  • Alkaptonuria: A rare disorder where the abnormal accumulation of a particular acid (homogentisic acid) in the body causes connective tissue and bone damage. This damage gives tissues a dark or bluish discoloration.
  • Arthritis: General name for any type of joint inflammation, but often means age-related osteoarthritis.
  • Behcet's Disease: Recurring inflammation of small blood vessels affecting various areas.
  • Camptodactyly: A rare syndrome characterized mainly by camptodactyly, tall stature and hearing loss. The hearing loss starts at birth or during infancy and progresses during childhood resulting in mild to severe hearing impairment.
  • Decompression sickness: Condition from overly rapid decompression, especially when diving.
  • Diffuse idiopathic skeletal hyperostosis: A form of degenerative arthritis characterized by calcification on the sides of the spine vertebrae as well as inflammation and calcification of tendons where they attach to bone which often results in bone spurs.
  • Erythema elevatum diutinum: A rare chronic skin disorder characterized by skin nodules and plaques near joints and on the back of the hands and feet.
  • Farber's disease: A rare inherited biochemical disorder involving the deficiency of an enzyme called ceramidase resulting in the harmful accumulation of certain chemicals in the body which causes damage and inflammation.
  • Fluorosis: Excessive fluoride in the body
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Graft-versus-host disease: A disease characterised by an immune response as a result of a transplantation or transfusion resulting in a widespread systemic inflammatory response
  • Hematochromatosis: Hemochromatosis is the abnormal accumulation of iron in parenchymal organs, leading to organ toxicity. It is the most common inherited liver disease in whites and the most common autosomal recessive genetic disorder.
  • Hepatitis A: Contagious viral infection of the liver
  • Impaired joint mobility: Impaired joint mobility refers to a weakened or inability to move the joints through a full range of motion.
  • Intellectual or developmental disabilities: Disorders of physical or intellectual development.
  • Intersex conditions: When the sex of an individual is not clear and may comprise characteristics of both sexes
  • Interstitial nephritis: A condition which is characterized by disease of the renal interstitial tissue
  • Joint swelling: One or more swollen joints
  • Kawasaki disease: A childhood illness that generally affects the skin, mouth and lymph nodes.
  • Learning disabilities: Various developmental problems impairing learning or schooling.
  • Mansonelliasis: Infection with a nematode (worm-like parasite) called Mansonella. Transmission usually occurs through the bite of a midge.
  • Men only conditions: Conditions affecting only males, and not females.
  • Mens Health Conditions: Medical conditions related to men's health.
  • Mixed connective tissue disease: A rare disorder of the connective tissue which affects a range of body tissues and organs.
  • Molybdenum, cofactor deficiency, inherited: A rare metabolic disorder characterized by excessive levels of xanthine in the urine. It is caused by a deficiency of the enzymes xanthine dehydrogenase (as in xanthinuria type I) and enzyme aldehyde oxidase (as in xanthinuria type II) as well as sulfite oxidase which are needed to metabolize xanthine. The metabolic abnormality causes severe xanthinuria with neurological symptoms. The condition may be an inherited or acquired (due to certain drug therapies) deficiency.
  • Mucolipidosis III: A rare metabolic disorder where deficiency of a particular enzyme leads to the buildup of mucopolysaccharides and mucolipids in the body which is harmful to the body and leads to premature death.
  • Multiple epiphyseal dysplasia: A rare genetic disorder characterized by short stature and limb, joint and hip abnormalities which become evident from two to 10 years.
  • Mycoplasma pneumoniae: Bacterial respiratory infection
  • Myhre Syndrome: A very rare inherited disorder characterized by retarded growth, mental retardation, bone abnormalities and distinctive facial features.
  • NOMID syndrome: A rare autoinflammatory disease characterized by fever, rash, arthritic changes, eye problems and chronic meningitis.
  • Obesity: An increase in the body weight greater than that required for normal function that is characterised by the accumulation of excessive fat
  • Osteoarthritis: Osteoarthritis is a chronic condition characterised by mechanical disrturbances due to degradation of joints. It is the most common form of arthritis, and the leading cause of chronic disability.
  • Osteochondritis Dissecans: A rare condition caused by an interruption of the blood supply to section of bone in a joint which can result in a piece of bone breaking off and causing pain. The knee is most often affected but it can occur in ankles and elbows.
  • 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.
  • Palindromic rheumatism: A rare disorder involving periodic inflammation in and around joints. Eventually, rheumatoid arthritis may develop if the condition persists.
  • Pericarditis: Inflammation of the membrane surrounding the heart
  • Polyarteritis nodosa: A serious blood vessel disease where small and medium-sized arteries become swollen and damaged and are unable to adequately supply oxygenated blood to various tissues in the body. The disease can occur in a mild form or a serious, rapidly fatal form.
  • Polychondritis: A serious, progressive, episodic condition characterized by inflammation and degeneration of cartilage in the body. The duration and severity of the episodes can vary.
  • Pseudoachondroplasia: A rare genetic disorder characterized by bone growth and development abnormalities.
  • Pyoderma Gangrenosum: A rare inflammatory skin disorder characterized by small red bumps or blisters which eventually become ulcerated.
  • Rheumatic fever: An inflammatory disorder that can occur as a complication of untreated streptococcal bacterial infection such as strep throat or scarlet fever. The condition may affect the brain, skin, heart and joints.
  • Rhizomelic pseudopolyarthritis: A rare condition which tends to cause muscle pain and stiffness in the neck, shoulder and hip area.
  • Ross River virus: Mosquito-borne virus in parts of Australia and other countries
  • Rubella: A contagious viral infection caused by the Rubella virus which produces a rash and lymph node swelling. It can have serious implication in pregnant women as the virus can be transmitted through the placenta and cause serious fetal defects or even fetal death.
  • SAPHO syndrome: A rare disorder involving skin (acne, pustulosis), bone (hyperostosis, osteitis) and joint problems.
  • Schnitzler syndrome: A rare syndrome characterized by the association of chronic urticaria as well as a blood abnormality called macroglobulinemia.
  • Secondary syphilis: A condition which is characterized by fever, multiform skin eruptions, iritis, alopecia, mucous patches and severe pain in the head and joints
  • Serum sickness: Type of allergic reaction to certain medications or serums
  • Sex chromosome conditions: Any condition that affects the sex chromosomes
  • Sitosterolemia: A very rare inherited disorder of lipid metabolism where excessive amounts of sterols are absorbed and not removed from the body resulting in a build up in the blood.
  • Stickler Syndrome: A rare genetic disorder characterized by joint problems, distinctive facial characteristics and eye and ear abnormalities.
  • Stiff joints: Reduced mobility or movement of the joints
  • Tall stature: Tall stature refers to being tall.
  • Wegener's granulomatosis: A rare disease involving blood vessel inflammation which can affect the blood flow to various tissues and organs and hence cause damage. The respiratory system and the kidneys are the main systems affected.
  • West Nile fever: Mosquito-borne infectious virus.
  • Whipple's Disease: Rare malabsorption disease from bacterial digestive infection
  • 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).
  • X Chromosome Disorders: Any condition that affects the x chromosome of an individual
  • Xanthine oxidase deficiency type I: A rare metabolic disorder characterized by excessive levels of xanthine in the urine. Type I xanthinuria is caused by a deficiency of the enzyme xanthine dehydrogenase which is needed to metabolize xanthine. The metabolic abnormality primarily causes kidney stones and kidney failure in severe cases.
  • Xanthine oxidase deficiency type II: A rare metabolic disorder characterized by excessive levels of xanthine in the urine. Type II xanthinuria is caused by a deficiency of the enzymes xanthine dehydrogenase and enzyme aldehyde oxidase which are needed to metabolize xanthine. The metabolic abnormality primarily causes kidney stones and kidney failure in severe cases.
  • Y Chromosome Disorders: A disorder that is caused by the occurrence of genetic material on the Y chromosome

 

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