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.
- Provider:StatPearls, LLC
- Activity Link: https://www.statpearls.com/ArticleLibrary/viewarticle/163571
- Start Date: 2024-12-01 06:00:00
- End Date: 2024-12-01 06:00:00
- Credit Details: AMA PRA Category 1 Credit™️: 1.5 hours
Nursing: 1.5 hours
Pharmacy: 1.5 hours - MOC Credit Details: ABS - 1.5 Point; Credit Type(s): Accredited CME (ABS)
ABOS - 1.5 Point; Credit Type(s): Accredited CME (ABOS)
ABPATH - 1.5 Point; Credit Type(s): Lifelong Learning (ABPATH)
ABA - 1.5 Point; Credit Type(s): Lifelong Learning (ABA)
ABTS - 1.5 Point; Credit Type(s): Accredited CME (ABTS)
ABIM - 1.5 Point; Credit Type(s): Medical Knowledge (ABIM)
ABS - 1.5 Point; Credit Type(s): Self-Assessment (ABS)
ABP - 1.5 Point; Credit Type(s): Lifelong Learning and Self-Assessment (ABP)
ABOHNS - 1.5 Point; Credit Type(s): Self-Assessment (ABOHNS)
ABTS - 1.5 Point; Credit Type(s): Self-Assessment (ABTS) - Commercial Support: No
- Activity Type: Enduring Material
- CME Finder Type: Online Learning
- Fee to Participate: Variable
- Measured Outcome: Learner Knowledge, Learner/Team Competence
- Provider Ship: Directly Provided
- Registration: Open to all
- Specialty: Adolescent Medicine, Adult Congenital Heart Disease, All Practice Areas (e.g. ethics), Cardiovascular Disease, Congenital Cardiac, Developmental-Behavioral Pediatrics, Endocrinology, Diabetes, and Metabolism, Gastroenterology, General Pediatrics, General Surgery, General Thoracic, Hematology, Hospital Medicine, Infectious Disease, Internal Medicine, Neonatal-Perinatal Medicine, Neurodevelopmental Disabilities, Pediatric Anesthesia, Pediatric Cardiology, Pediatric Critical Care Medicine, Pediatric Emergency Medicine, Pediatric Endocrinology, Pediatric Gastroenterology, Pediatric Infectious Diseases, Pediatric Neurology, Pediatric Orthopaedic Surgery, Pediatric Otolaryngology, Pediatric Surgery, Pulmonary Disease