The importance of hyperphagia as a cause for energy imbalance in humans with Bardet‐Biedl syndrome (BBS) has not been established. We therefore compared hyperphagic symptoms in patients with BBS vs. controls.

We studied 13 patients with BBS and 23 non‐syndromic controls with similar age, sex and body mass index (BMI) z‐score. A 13‐item hyperphagia questionnaire was completed by patients' parents/guardians.

Total hyperphagia questionnaire score was higher in BBS than controls (27.6 ± 9.0 vs. 19.1 ± 7.9, P = 0.005). Behaviour and drive subscales were higher for BBS than controls (12.5 ± 4.1 vs. 7.8 ± 3.2, P = 0.001, and 11.2 ± 4.1 vs. 8.3 ± 3.8, P = 0.04, respectively); severity was not significantly different between groups (3.8 ± 1.5 vs. 3.0 ± 1.3, P = 0.072). After adjustment for demographic variables and BMI z‐score, total and behaviour subscale scores remained significantly different between groups, suggesting food‐seeking activity, rather than preoccupation with food may be the main hyperphagic feature among patients with BBS.

Appetite dysregulation may contribute to obesity in BBS.