Definition:
Bardet-Biedl syndrome, type 1 is an unusual hereditary or genetic disorder distinguished by mental retardation, polydactyly, obesity and pigmentation of the retina and other anomalies. Bardet-Biedl syndrome, type 1 results from the deficiency in chromosome 11q13.
Prevalence:
Bardet-Biedl syndrome, type 1 is classified as a “rare disease” according to the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH) which means that it affects not more than 200,000 individuals in the US population.
Symptoms and Signs:
The list below is the known symptoms of Bardet-Biedl syndrome, type 1:
Obesity
Short stature
Mental deficiency
Low verbal I.Q.
Low performance or I.Q.
Inappropriate mannerisms
Visual impairment
Retinal dystrophy
Myopia
Astigmatism
Nystagmus
Glaucoma
Cataracts
Aphakia
Retinitis pigmentosa
Take note that the symptoms might not be seen by patients but by physicians or medical experts.
Complications:
The list below is the known complications experienced by individuals affected by Bardet-Biedl syndrome, type 1:
Blindness
Renal failure
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