Abstract

Abstract It is becoming increasingly important for physicians to have a systematic approach to the assessment of children with severe obesity. While a small proportion of severely obese children have features associated with classical genetic obesity syndromes such as Prader–Willi syndrome, there is increasing recognition that genetic disorders can present as severe obesity alone without developmental delay, dysmorphology, or other clinical signs. The diagnosis of a genetic obesity syndrome is of value for families and may help both children and families deal with the social stigma around severe childhood obesity. The finding of a genetic cause for a patient’s obesity sometimes leads to specific therapy. Exome and genome sequencing have accelerated discovery of genes and mechanisms that explain a variety of previously unrecognized childhood obesity syndromes.

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