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Dev Period Med. 2016 Apr-Jun;20(2):105-9.

Polydactyly and obesity - the clinical manifestation of ciliopathy: a boy with Bardet-Biedl syndrome.

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Department of Pediatric Nephrology, The Medical University of Warsaw, Żwirki i Wigury 63A, Warsaw, Poland Telephone: (+48 22) 317-96-65 Fax: (+48 22) 317-99-54 e-mail:
Department of Pediatric Nephrology, The Medical University of Warsaw, Poland.
Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.


The prevalence of obesity in children is still rising all over the world. The most common reason for significant weight gain is a high-calorie diet and decreased physical activity. However, apart from environmental factors, genetic predisposition plays a crucial role in the pathomechanism of obesity. We present the case of a boy with pathological obesity and Bardet-Biedl syndrome (BBS). BBS is a ciliopathy, a heterogeneous group of rare disorders associated with defects in primary cilia. Other clinical signs and symptoms of BBS are: polydactyly, hypertension, hyperlipidemia, hypogonadotrophic hypogonadism, intellectual disability, rod-cone dystrophy, genitourinary and renal abnormalities.


genetic factors of rapid weight gain should be taken into consideration in a child with obesity. Polydactyly can be associated with ciliopathy. A patient with Bardet-Biedl syndrome requires multi-specialist care.


ciliopathy; dysplastic kidney; obesity; polydactyly; retinitis pigmentosa

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