Bardet-Biedl Syndrome

Laurence-Moon-Bardet-Biedl syndrome, Laurence-Moon syndrome


Type of disease: Rare conditions

Bardet-Biedl syndrome is a genetic condition that can result from mutations to a number of different genes. The condition affects many parts of the body, and is seen in about 1 of every 150,000 newborns. The primary symptom of Bardet-Biedl syndrome is blindness, beginning with night blindness (inability to see things in low light) in late childhood. Additionally, individuals with this condition may be born with polydactly (extra fingers or toes) and develop issues with weight gain that can lead to childhood obesity. About half of all children with Bardet-Biedl syndrome have developmental problems affecting speech, behavior, or intellectual ability, but these symptoms will vary. There is currently no treatment for this condition, but scientists have identified genes which cause this condition which may contribute to research efforts. Management of the disease depends on the severity of an individual’s symptoms, but may include different aids for sight as vision worsens.

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