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Bardet-Biedl Syndrome Symptoms: Exploring the Diverse Manifestations of BBS


July 19, 2023

Discover the range of symptoms associated with Bardet-Biedl syndrome, including intense, hard-to-control hunger (hyperphagia), obesity, visual impairment, kidney problems, polydactyly, and intellectual disability. Learn how to identify and manage these symptoms in individuals with BBS for improved quality of life.


Discover the wide range of symptoms associated with Bardet-Biedl syndrome (BBS), a rare genetic disorder that affects multiple organ systems. Understanding these symptoms is crucial for early identification and effective management. This article explores the various manifestations of BBS, including intense, hard-to-control hunger (hyperphagia), obesity, visual impairment, kidney abnormalities, polydactyly, and intellectual disability.

Hyperphagia & Obesity:

Intense, hard-to-control hunger (hyperphagia) and obesity are significant symptoms of BBS. Hyperphagia in BBS is severe and can affect sleep, mood, school or work, recreational activities, and relationships with family and friends. Obesity is early-onset, as rapid weight can begin in the first years of life. Treatment options are available to address hyperphagia and obesity in BBS patients.

Visual Impairment:

Bardet-Biedl syndrome commonly leads to progressive vision loss and retinal degeneration. Symptoms may include night blindness (nyctalopia) and decreased peripheral vision (tunnel vision). Retinitis pigmentosa, which involves the degeneration of light-sensitive cells in the retina, is frequently observed in individuals with BBS. Regular eye examinations are essential for early detection and intervention.

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Kidney Abnormalities:

BBS can impact kidney function, resulting in various complications. Individuals with BBS may develop kidney cysts, impaired kidney filtration (renal insufficiency), or end-stage renal disease. Symptoms of kidney involvement include increased urination (polyuria), excessive thirst (polydipsia), high blood pressure (hypertension), and abnormal levels of protein or blood in the urine. Regular monitoring and management of kidney health are crucial for individuals with BBS.


Polydactyly refers to the presence of extra fingers or toes, which is a characteristic feature of BBS. The severity of polydactyly can vary, ranging from minor extra skin tags to fully formed, functional digits. Surgical intervention may be necessary in cases causing functional limitations or aesthetic concerns.

Learning Disabilities:

Learning disabilities, speech delays, and developmental delays are common features of BBS, though the severity can vary. Early intervention, educational support, and therapeutic interventions can help individuals with BBS overcome these challenges.


Bardet-Biedl syndrome is a complex genetic disorder with diverse symptoms affecting various organ systems. Early recognition of these symptoms is essential for timely interventions and management. By understanding the diverse manifestations of BBS, healthcare professionals, including obesity specialists, retinal specialists, nephrologists, endocrinologists, and primary care providers, can provide comprehensive care and support to individuals with this rare syndrome.


This blog post was developed by Ambit on behalf of Rhythm Pharmaceuticals, Inc.

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You are not alone. A community and a treatment for obesity in individuals living with BBS are out there – find out more today.

The majority of individuals living with BBS experience intense, hard-to-control hunger contributing to obesity. There is an approved treatment that significantly reduced measures of weight and hunger in clinical trials in people living with BBS. Take the questionnaire to connect to educational resources.

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Please note that AmbitCare provides this information for the benefit of the rare disease community. AmbitCare is not a medical provider nor a health care facility. AmbitCare can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. Individuals must rely on the personal and individualized medical advice of their qualified health care professionals before seeking any information related to their particular diagnosis, cure, or treatment of a condition or disorder.