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Diseases » HARD syndrome » Glossary
 

Glossary for HARD syndrome

  • Argyria: Grey/black staining of the skin due to overexposure of silver salts - usually occupational exposure or medication
  • Brain conditions: Medical conditions that affect the brain
  • Congenital Muscular Dystrophy: Muscle weakness and wasting that starts at birth or around the time of birth. The severity and extent of muscle involvement is greatly variable.
  • Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
  • Congenital conditions -- physical defects: Congenital (birth) defects causing a physical structure defect (rather than metabolic).
  • Eye and vision conditions: Medical conditions affecting the eyes or the vision systems.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Hydrocephalus: A rare condition where the normal flow of cerebrospinal fluid is impaired by dilated brain ventricles which causes the fluid to accumulate in the skull and hence result in increased brain pressure.
  • Lissencephaly: A very rare disorder characterized by abnormal brain formation so that the brain surface appears smooth rather than convoluted.
  • Macrogyria: A condition characterized by a moderate reduction in the sulci number of the brain
  • Myopathy: General name for any disease of the muscles.
  • Nervous system conditions: Diseases affecting the nerves and the nervous system.
  • Polymicrogyria: Polymicrogyria refers to abnormal brain development where the brain has abnormally smooth gyri (convolutions) on the surface of the brain. The anomaly is often occurs as part of another syndrome. Patients can present with a wide range and severity of symptoms which can make the prognosis difficult to determine.
  • Sexual Conditions: Any condition that affects sexual function
  • Urinary system conditions: Medical conditions affecting urination, urinary organs or the urinary system.
  • Walker-Warburg Syndrome: A rare inherited disorder characterized by brain malformations and retinal and muscle abnormalities.

 

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