The advancement of research is an important part of diagnosing and understanding Kabuki syndrome. Alhough KSN has worked in concert with past studies, we have not yet actively raised funds in support of research projects. We would like to encourage anyone who is interested in setting up a research foundation to contact KSN.
Approximately 75% of individuals with a clinical diagnosis of Kabuki are caused by an MLL2 mutation. According to a study published in July 2011 the presenting characteristics of MLL2 mutation-positive cases did not differ greatly from the MLL2 mutation-negative cases. the one exception being that renal anomalies were more common in the mutation-positive group.
Facial Dysmorphology Novel Analysis (FDNA) is a company that uses face-recognition software to detect syndromes that have a distinct facial gestalt by analyzing 2D facial photos. They will provide a simple free downloadable mobile application that can be used in the clinical settings by health professionals.