STICKLER SYNDROME

Course overview

Stickler syndrome (SS) is caused by mutations to one of several genes including COL2A1, COL11A1, and COL112A. A mutation in these genes affect collagen synthesis and manifestations of SS can include a distinctive facial appearance (e.g., cleft palate, a flat face, micrognathia), the development of cataracts and/or retinal detachment during childhood, progressive hearing loss, skeletal and joint abnormalities, and, in some cases, mitral valve prolapse. This continuing education module is designed to give the reader/learner an increased understanding of Stickler syndrome, its clinical presentation, symptoms, and treatment for patients with this diagnosis. Readers may explore any or all of the topics. One contact hour of continuing education credit is available for those who successfully complete the post-test and evaluation form.