Bardet-biedl syndrome

A genetic disorder characterized by obesity, mental retardation, polydactyly (extra fingers or toes), and hypogonadism.


Bardet-Biedl syndrome is a rare disorder inherited as an autosomal recessive genetic trait. As with Laurence- Moon syndrome, Bardet-Biedl syndrome is characterized by mental retardation, hypogonadism, and progressive retinal dystrophy with vision failure. Renal failure also occurs, as does hypertension, and these represent the leading cause of death. Two symptoms specific to Bardet-Biedl syndrome include obesity and polydactyly. Alstrom syndrome and Prader-Willi syndrome exhibit similar symptoms to that of Bardet-Biedl and may be useful in terms of differential diagnosis.


A highly uncommon genetic disorder is marked by a combination of cognitive impairments, retinopathy (an eye abnormality), obesity, polydactyly (the presence of additional fingers or toes), and hypogonadism (insufficient functioning of the testes or ovaries).


 


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