NOONAN SYNDROME

Course overview

NOONAN SYNDROME IS TYPICALLY A GENETICALLY INHERITED DISORDER WITH HETEROGENEOUS PHENOTYPIC MANIFESTATIONS THAT CAN CHANGE WITH AGE. THE MOST CONSISTENT FEATURES ARE WIDE-SET EYES, LOW-SET EARS, SHORT STATURE, AND PULMONIC STENOSIS. NOONAN SYNDROME IS TYPICALLY INHERITED IN AN AUTOSOMAL DOMINANT MANNER. AT LEAST 8 DIFFERENT GENE MUTATIONS CAN CAUSE THIS SYNDROME, AND PATIENT PRESENTATION CAN RANGE FROM MILD TO SEVERE. DIAGNOSTIC CRITERIA HAVE BEEN DEVELOPED TO AID IN THE DIAGNOSIS OF NOONAN SYNDROME. THIS ACTIVITY DESCRIBES THE EVALUATION, DIAGNOSIS, AND MANAGEMENT OF NOONAN SYNDROME AND STRESSES THE ROLE OF TEAM-BASED INTERPROFESSIONAL CARE FOR AFFECTED PATIENTS.