Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder resulting from an inability to synthesize cholesterol. The syndrome is rare but severe, with an incidence of 1 in 10,000 to 70,000 newborns. Errors in embryogenesis occur due to the lack of cholesterol production, resulting in cell membrane dysfunction and lack of activation of hedgehog proteins responsible for coordinating translocation and differentiation. Further complications result from the continual inability to produce cholesterol and the accumulation of cholesterol precursors.The clinical manifestations of SLOS are multisystemic. The presentation affects most organ systems and has a broad spectrum of complications. Most patients with SLOS require lifelong support. Holistic management of patients with this syndrome requires clinicians to understand the pathophysiology and subsequent complications. If recognized, SLOS is closely monitored throughout the patient’s life to avoid further complications and morbidity. This activity describes the epidemiology, genetics, clinical presentation, and management of SLOS, providing healthcare professionals with the knowledge to improve patient care for this complex and prevalent condition.
- Provider:StatPearls, LLC
- Activity Link: https://www.statpearls.com/ArticleLibrary/viewarticle/151214
- Start Date: 2024-12-01 06:00:00
- End Date: 2024-12-01 06:00:00
- Credit Details: AMA PRA Category 1 Credit™️: 1.0 hours
Nursing: 1.0 hours
Pharmacy: 1.0 hours - MOC Credit Details: ABS - 1.0 Point; Credit Type(s): Accredited CME (ABS)
ABOS - 1.0 Point; Credit Type(s): Accredited CME (ABOS)
ABA - 1.0 Point; Credit Type(s): Lifelong Learning (ABA)
ABTS - 1.0 Point; Credit Type(s): Accredited CME (ABTS)
ABIM - 1.0 Point; Credit Type(s): Medical Knowledge (ABIM)
ABS - 1.0 Point; Credit Type(s): Self-Assessment (ABS)
ABP - 1.0 Point; Credit Type(s): Lifelong Learning and Self-Assessment (ABP)
ABOHNS - 1.0 Point; Credit Type(s): Self-Assessment (ABOHNS)
ABTS - 1.0 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, Ambulatory/Outpatient, Cardiac Anesthesia, Cardiothoracic, Cardiovascular Disease, Congenital Cardiac, Developmental-Behavioral Pediatrics, Endocrinology, Diabetes, and Metabolism, Facial Plastic & Reconstructive Surgery, Gastroenterology, General Operative Anesthesia, General Orthopaedics, General Otolaryngology, General Pediatrics, General Surgery, General Thoracic, Hand Surgery, Hospital Medicine, Internal Medicine, Interventional Cardiology, Neonatal-Perinatal Medicine, Nephrology, Neurodevelopmental Disabilities, Non-Thoracic Surgery, Pediatric Anesthesia, Pediatric Cardiology, Pediatric Critical Care Medicine, Pediatric Endocrinology, Pediatric Gastroenterology, Pediatric Nephrology, Pediatric Neurology, Pediatric Orthopaedic Surgery, Pediatric Otolaryngology, Pediatric Pulmonology, Pediatric Surgery, Pulmonary Disease, Rhinology, Surgery of the Hand