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.
