Snapshot A 3-year-old boy is brought to a pediatrician. His past medical history is unknown, as this is his first visit to the pediatrician. His mother reports that the family prefers an isolated existence and therefore has not sought medical help. However, she reports being concerned about his learning abilities, as his speech appears delayed compared to his sisters. On physical exam, the boy has a prominently long face, large jaw, and large ears. The pediatrician recommends a genetic test. Introduction Overview login to view 1 more bullet Epidemiology login to view 6 more bullets Genetics login to view 6 more bullets Associated conditions login to view 3 more bullets Prognosis login to view 1 more bullet 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