KABUKI SYNDROME

Course overview

KABUKI SYNDROME IS A RARE INHERITED GENETIC SYNDROME CAUSED BY MUTATIONS IN EITHER THE KMT2D OR KDM6A GENE. THESE MUTATIONS AFFECT METHYLATION, LEADING TO ABNORMAL GROWTH AND DEVELOPMENT. KABUKI SYNDROME IS OFTEN RECOGNIZED BY THE CHARACTERISTIC FACIAL FEATURES THAT ARE THOUGHT TO RESEMBLE TRADITIONAL JAPANESE KABUKI THEATRE ACTORS. THE CONDITION HAS A HETEROGENEOUS PHENOTYPE AND AFFECTS MULTIPLE BODY SYSTEMS, LEADING TO CRANIOFACIAL ABNORMALITIES, HEARING LOSS, VISION PROBLEMS, CONGENITAL HEART DEFECTS, FEEDING DIFFICULTIES, IMMUNE DYSFUNCTION, POOR GROWTH, SKELETAL AND DERMATOGLYPHIC ABNORMALITIES, AND DIFFICULTIES WITH COGNITION AND DEVELOPMENT. THERE IS NO TREATMENT OTHER THAN SYMPTOMATIC MANAGEMENT AND PREVENTION OF COMPLICATIONS.THIS ACTIVITY REVIEWS THE GENETIC BASIS FOR KABUKI SYNDROME, ITS CLINICAL MANIFESTATIONS, DIAGNOSTIC CONSIDERATIONS, AND MANAGEMENT. BY PARTICIPATING IN THIS ACTIVITY, HEALTHCARE PROFESSIONALS ENHANCE THEIR KNOWLEDGE OF DIAGNOSTIC ACCURACY, IMPROVE PATIENT CARE, AND STAY CURRENT WITH EVOLVING PRACTICES WHEN MANAGING KABUKI SYNDROME. THIS COURSE ALSO HIGHLIGHTS THE IMPORTANCE OF AN INTERPROFESSIONAL HEALTHCARE TEAM IN PROVIDING COMPREHENSIVE, INDIVIDUALIZED CARE FOR PATIENTS WITH THIS RARE SYNDROME.