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Glossary for Bardet-Biedl Syndrome

  • Blindness: The inability to see out of the eyes
  • Brachydactly:
  • Cataracts: Cloudy areas on the eye's cornea interfering with vision.
  • Hypogonadism: Medical term for a defect of the reproductive system that results in lack of function of the gonads (ovaries or testes).
  • Inappropriate mannerisms:
  • Interstitial nephritis: A condition which is characterized by disease of the renal interstitial tissue
  • Kidney stones: Stone-like calcium deposits in the kidney.
  • Low performance I.Q.:
  • Low verbal I.Q.:
  • Mental problems: Symptoms affecting judgement, thought or intelligence.
  • Obesity: An increase in the body weight greater than that required for normal function that is characterised by the accumulation of excessive fat
  • Patent ductus arteriosus: Patent ductus arteriosus (PDA) is a congenital heart defect wherein a child's ductus arteriosus fails to close after birth.
  • Polydactyly: A rare deformity where the hands and/or feet have extra digits.
  • Retinitis Pigmentosa: Retinitis pigmentosa is a group of inherited disorders characterized by progressive peripheral vision loss and night vision difficulties that can lead to central vision loss.
  • Short stature: A very rare syndrome characterized mainly by short stature and metabolic abnormality.
  • Visual impairment: A condition that affects ones vision


 » Next page: Clinical Trials for Bardet-Biedl Syndrome

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