Indication

Obesity due to Bardet-Biedl syndrome

Obesity due to Bardet-Biedl syndrome is a form of early-onset, syndromic neuroendocrine obesity arising from a rare autosomal recessive ciliopathy that disrupts primary ciliary transport and intracellular trafficking. Read more about Obesity due to Bardet-Biedl syndrome

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About Obesity due to Bardet-Biedl syndrome.

Obesity due to Bardet-Biedl syndrome is a form of early-onset, syndromic neuroendocrine obesity arising from a rare autosomal recessive ciliopathy that disrupts primary ciliary transport and intracellular trafficking.

Affecting pediatric and adult populations, the condition stems from genetic variants that impair ciliary protein complexes—notably the BBSome—in hypothalamic neurons, leading to defective leptin and melanocortin-4 receptor signaling pathways.

This molecular dysfunction drives pathognomonic hyperphagia, reduced satiety, lower resting energy expenditure, and rapid adiposity typically emerging during early childhood.

Clinically, excessive central weight gain occurs alongside multisystem manifestations of Bardet-Biedl syndrome, including progressive rod-cone dystrophy, postaxial polydactyly, renal structural or functional anomalies, hypogonadism, and metabolic complications such as severe insulin resistance and dyslipidemia.

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