Snapshot A 4-year-old girl is brought to the pediatrician for evaluation of learning issues. Her mother reports that there is a family history of intellectual disability in the men in her family, but she is unsure what that syndrome is. On physical exam, the patient has a mildly long face and slightly prominent ears. Tests show that her speech and language skills are delayed for her age. She is referred to speech and language therapist as well as genetic testing for suspected fragile X syndrome. Introduction Overview login to view 1 more bullet Epidemiology Incidence login to view 1 more bullet Demographics login to view 2 more bullets Risk factors login to view 1 more bullet ETIOLOGY Genetics login to view 6 more bullets Associated conditions login to view 3 more bullets Presentation Symptoms login to view 18 more bullets Physical exam login to view 12 more bullets Imaging Radiograph login to view 4 more bullets Echocardiograph login to view 4 more bullets Studies DNA testing is diagnostic login to view 2 more bullets Differential Autism spectrum disorder (ASD) login to view 3 more bullets Treatment Treatment is aimed at symptomatic management Lifestyle login to view 6 more bullets Medical login to view 3 more bullets Complications Recurrent infections Seizure disorders Prognosis Life span is normal