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Diseases » Marfan syndrome » Glossary

Glossary for Marfan syndrome

  • Abdominal Hernia: A protrusion of the intraabdominal contents through a defect in the abdominal wall
  • Ankylosing Spondylitis: Inflammation of spinal joints similar to rheumatoid arthritis.
  • Aortic valve incompetence: A condition characterized by an inability of the aortic valve to function effectively
  • Arm symptoms: Symptoms affecting the arm
  • Autosomal Dominant Genetic Diseases: Any conditions that are related to any non-sex-determining chromosome
  • Autosomal Genetic Diseases: Any conditions that are related to any non-sex-determining chromosome
  • Bone changes: Changes to the bones as a symptom
  • Bone conditions: Conditions that affect the bones
  • Cataracts: Cloudy areas on the eye's cornea interfering with vision.
  • Chest conditions: Any condition affecting the chest
  • Connective tissue disorders: Any condition affecting connective tissues.
  • Dominant Genetic Diseases: Genetic disease where the mutated gene is dominant
  • Ehlers-Danlos syndrome: A group of inherited connective tissue disorders primarily involving the joints and skin. There are 11 disorders in the group.
  • Emphysema: Emphysema is a type of chronic obstructive pulmonary disease (COPD). It is defined as an abnormal, permanent enlargement of the air spaces distal to the terminal bronchioles accompanied by destruction of their walls and without obvious fibrosis.
  • Enophthalmos: A condition which is characterized by the recession of the eyeball
  • Eye and vision conditions: Medical conditions affecting the eyes or the vision systems.
  • Finger symptoms: Symptoms affecting any fingers
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Glaucoma: Glaucoma is the term for a diverse group of eye diseases, all of which involve progressive damage to the optic nerve. Glaucoma is usually, but not always, accompanied by high intraocular (internal) fluid pressure. Optic nerve damage produces certain characteristic visual field defects in the individual's peripheral (side), as well as central, vision.
  • Heart conditions: Any condition that affects the heart
  • Heart symptoms: Symptoms affecting the heart
  • Heart valve conditions: Medical conditions affecting the valves of the heart.
  • Hemorrhage: Bleeding of any type (especially when referring to severe bleeding)
  • Heritable Disorders of Connective Tissue: Genetic inheritable connective tissue disorders.
  • High arched palate: A condition where the roof of the mouth is higher in the mouth than normal.
  • Homocystinuria: A rare inherited metabolic disorder involving the amino acid methionine and resulting in a harmful accumulation of homocysteine in the body.
  • Inguinal hernia: Protrusion of the intestines out of the groin area.
  • Klinefelter syndrome: 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. Klinefelter syndrome variants is a more severe form of the condition as it involves more than one extra X or X and Y chromosome in each cell.
  • Kyphosis: Outward curvature of the spine at the back causing hunching or Dowager's hump
  • Leg symptoms: Symptoms affecting the leg
  • Lens dislocation: The dislocation of the lens of the eye
  • Limb conditions: Medical conditions affecting the upper or lower limbs.
  • Mitral-valve prolapse: A common heart condition that is often harmless.
  • Musculoskeletal conditions: Medical conditions affecting the musculoskeletal system of bones, muscles and related structures.
  • Myopia: Short-sightedness often requiring glasses
  • Pneumothorax: Air in the pleural spaces around the lungs.
  • Pregnancy symptoms: Symptoms related to pregnancy.
  • Retinal detachment: Partial or total detachment of retina from the back of the eye.
  • Scoliosis: Sideways curvature of the spine
  • Sudden death: The sudden death of an individual
  • Swollen bone: Enlarged, swollen, or misshapen bones
  • Syphilis: A sexually transmitted disease caused by a bacteria (Treponema pallidum). The condition is often asymptomatic in the early stages but one or more sores may be present in the early stages. Untreated syphilis usually results in remission of visible symptoms but further severe damage may occur to internal organs and other body tissues which can result in death.
  • Tall stature: Tall stature refers to being tall.
  • Tallness: Excessive body height.
  • Temporal arteritis: Inflamed head artery causing headache.
  • Thinness: Underweight and thin


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