Symptoms of Barder-Biedl Syndrome

Bardet-Biedl syndrome is a condition where change in one gene influences the normal functioning of multiple organs. It is a complication associated with obesity. As this physical disorder has reached epidemic proportions in the United States, awareness about symptoms of Bardet-Biedl syndrome like ailments has become imperative too.

Symptoms of Barder-Biedl Syndrome:

  • Obesity
  • Low verbal I Q
  • Visual impairment
  • Mental deficiency
  • Short stature
  • Low performance I Q
  • Inappropriate mannerisms
  • Broad feet
  • Small testes
  • Small penis
  • Degeneration of retina
  • Abnormal color vision
  • Delayed sexual development
  • Abnormal kidney function
  • Abnormal kidney calyces – Calyces are cup-like structures which act like funnels in the kidney
  • Myopia – Near-sightedness
  • Mature cataracts – Complete clouding of the eye lens
  • Posterior capsular cataracts – Complications after cataract surgery
  • Astigmatism – Blurred vision
  • Retinal dystrophy – Collective term used to describe diseases associated with retina of the eye
  • Abnormal kidney structure
  • Hypogonadism – Decreased ability of the hormone producing organ gonads
  • Nystagmus – Unintentional jittery movement of the eyes
  • Communicating kidney cysts – Closed sac-like structures which look different from their surroundings and contain some fluid in them
  • Fetal kidney lobulations – Formation of small rounded projections on the kidney
  • Diffuse cortical loss in kidney
  • Communicating kidney diverticulae – Outpouching of hollow fluid filled structures
  • Focal kidney scarring
  • Aphakia – Absence or loss of the eye lens
  • Syndactyly – Malformation of limbs at the time of birth
  • Brachydactyly of hands – Underdevelopment of the bones of hands
  • Retinitis pigmentosa – A collection of genetic eye diseases which lead to incurable blindness
  • Septate vagina – A longitudinally divided vegina
  • Ectopic urethra – Abnormal location of the urethra
  • Urogenital sinuses – Problems in the development of urinary and reproductive organs
  • Postaxial polydactyly – Duplication of fingers
  • Uterus duplex – Uterus with double lumen
  • Hypoplastic fallopian tubes – Incomplete development of fallopian tubes
  • Hypoplastic uterus – Incomplete development of uterus
  • Hypoplastic ovaries – Incomplete development of ovaries
  • Reduced or extra sensitivity to smell

Symptoms of Barder-Biedl Syndrome are sill studied carefully as part of genetic research. It is because the exact mechanism behind the appearance of these signs is not clear yet.

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