PURPOSE: The aim of the present study was to analyze disease-specific quality of life, as assessed by the Hirschsprung Disease/Anorectal Malformation Quality of Life (HAQL) questionnaire, in children and adults with anorectal malformations (ARM). METHODS: As much as 175 children and 62 adults who were members of the Italian Association for Anorectal Malformations were asked to complete the Italian version of the HAQL questionnaire developed for this study. For children under 16 years of age, mothers were asked to fill up the questionnaires. Patients were also asked to indentify their type of malformation from a list of eight choices. RESULTS: Most subscales of the Italian HAQL had acceptable reliability. Compared to children, adults reported significantly lower levels of QL on subscales measuring emotional functioning, body image, and physical symptoms. CONCLUSIONS: Longitudinal studies are needed to clarify whether these results can be attributed to improvements in surgical techniques that have contributed to improved QL in younger cohorts, or if, instead, quality of life in patients with ARM decreases over time. Intervention efforts should focus on bowel management and psychological treatment for ARM-related emotional and body image distress.