Kabuki syndrome is a rare genetic condition syndrome characterized by a range of signs and symptoms with an unmet need for treatment.

This manuscript details the results of an online survey conducted with 68 participants (57 caregivers of patients with Kabuki syndrome and 11 adolescents with Kabuki syndrome).

This work is a novel characterization of Kabuki syndrome from the caregiver and patient perspective.

This research was conducted with the intention of collecting patient- and observer-reported data on the burden of disease in Kabuki syndrome in order to help inform the Kabuki syndrome community as well as future clinical trial design.