Snapshot A 42-year-old nulliparous woman gives birth to her first child. The baby boy is noted to have a flat facial profile and almond-shaped eyes. On exam, a prominent murmur is heard. Introduction Most common chromosomal disorder and cause of mental retardation Characterized by Trisomy 21 (most often) or chromosomal translocation EPIDEMIOLOGY Risk factors include advanced maternal age login to view 2 more bullets ETIOLOGY Associated with development of multiple comorbidites including login to view 3 more bullets Presentation Symptoms login to view 11 more bullets Physical exam login to view 14 more bullets IMAGING Echocardiogram login to view 1 more bullet STUDIES Genetic testing login to view 2 more bullets EKG login to view 1 more bullet Amniocentesis login to view 4 more bullets Chorionic villus sampling (CVS) login to view 4 more bullets Differential Child's syndromic appearance should raise awareness of other potential genetic abnormalities, including but certainly not limited to Turner's syndrome, Patau's syndrom, Edward's syndrome, and William's syndrome DIAGNOSIS Diagnosis is based primarily on physical exam and mother's medical history Treatment Prevention login to view 2 more bullets Medical management login to view 14 more bullets Complications Include cardiac septal defects, acute lymphocytic leukemia, and Alzheimer's disease Prognosis Ranges widely depending on severity of manifestation of associated disease Average life-span 30-40 years, but improving with advanced medical care