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 Risk factors include advanced maternal age 1:1500 in women under 20 1:25 in women over 45 Associated with development of multiple comorbidites including acute lymphocytic leukemia (ALL) early-onset Alzheimer's disease atlantoaxial instability (C1-C2) Presentation Symptoms symptoms range widely from person to person and can be mild to severe including mental retardation flat facial profile prominent epicanthal folds simian creases in hands protruding tongue cardiac problems Physical exam evidence of mental retardation atlantoaxial instability may be appreciated (C1-C2) hypotonia gap may be noted between the first and second toes Brushfield spots spots between the inner and outer margins of the iris shortened 5th digit small ears signs of other associated diseases including duodenal atresia Hirschprung's disease congenital heart anamolies atrioventricular canal is most common endocardial cushion defects also very common Evaluation Diagnosis is based primarily on physical exam and mother's medical history Genetic testing can be used to confirm diagnosis and establish specific chromosomal abnormality i.e. Trisomy 21 versus chromosomal translocation Echocardiogram to assess for structural heart defects EKG to assess for cardiac conduction abnormalities Amniocentesis amniotic fluid sample is obtained with fine needle through the abdomen and uterus performed during 15th week of pregnancy or later less risk to child than chorionic villus sampling usually indicated in mothers > 35 years old Chorionic villus sampling (CVS) placental tissue sample is retrieved via vagina and cervix usually performed between 10th-12th week of pregnancy more risk to child, but can be performed earlier usually indicated in mothers > 35 years of age 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 Treatment Medical management there is no cure for Down syndrome, therefore all efforts are focused on sequelae frequent screening eye exam every year in infancy hearing tests every 6-12 months dental exams every 6 months cervical spine x-rays around age 3-5 years Pap smears/pelvic exams beginning age 21 thyroid testing every 12 months treat associated pathology Hirschsprung's disease duodenal atresia endocardial cushion defects acute lymphocytic leukemia early-onset Alzheimer's Prognosis, Prevention, and Comlications Prognosis ranges widely depending on severity of manifestation of associated disease average life-span 30-40 years, but improving with advanced medical care Prevention no preventive measures are available at this time selective pregnancy termination has been employed following amnio/CVS in older mothers Complications include cardiac septal defects, acute lymphocytic leukemia, and Alzheimer's disease