FRAGILE X SYNDROME

Course overview

FRAGILE X SYNDROME (FXS), ALSO CALLED MARTIN-BELL SYNDROME, IS A NON-MENDELIAN TRINUCLEOTIDE REPEAT DISORDER. FXS IS THE MOST PREVALENT INHERITED CAUSE OF MILD TO SEVERE INTELLECTUAL DISABILITY AND THE MOST COMMON MONOGENIC CAUSE OF AUTISM SPECTRUM DISORDER (ASD). IT ACCOUNTS FOR ABOUT ONE-HALF OF CASES OF X-LINKED MENTAL RETARDATION AND IS THE MOST COMMON CAUSE OF MENTAL IMPAIRMENT AFTER TRISOMY 21. PHYSICAL FEATURES INCLUDE A LONG AND NARROW FACE WITH A PROMINENT JAW, FLEXIBLE FINGERS, LARGE EARS, AND ENLARGED TESTICLES IN MALES. THIS ACTIVITY REVIEWS THE CAUSE, PATHOPHYSIOLOGY, AND PRESENTATION OF FRAGILE X SYNDROME AND HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN ITS MANAGEMENT.