5 Facts you should know about

Bardet-Biedl syndrome

Autosomal recessive ciliopathy with rod-cone dystrophy, obesity, polydactyly, learning issues, hypogonadism, and renal anomalies

Night blindness in childhood progresses to severe visual impairment; confirm with genetic testing (multiple BBS genes)

Renal disease is a major morbidity driver; monitor BP, renal function, and structural anomalies longitudinally

Comprehensive weight and endocrine management are important; setmelanotide is approved for chronic weight management in BBS ≥6 years

Screen for sleep apnea, diabetes, hypertension; provide low-vision resources and educational support

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