Snapshot A young, immigrant mother brings her 6-month-old child to the pediatrician for the first time. He is noted to have low-set ears, clenched fists, and a small, retracted lower jaw, as well as a cardiac murmur on auscultation. Introduction Relatively common genetic abnormality, though less so than Down syndrome Characterized by trisomy 18, partial trisomy of chromosome 18, or translocation Pregnant mothers may be observed to have unusually large uterus unusually small placenta large amount of amniotic fluid all likely result of polyhydramnios secondary to renal dysfunction in child Epidemiology Relatively common, though not as common as trisomy 21 More frequently observed in females > males (3:1) ETIOLOGY Associated with development of multiple comorbidites including congenital heart disease horseshoe kidneys Presentation Symptoms severe mental retardation classic group of physical deformities, as described below Physical exam physical deformities are evident indicative of syndromic pathology including severe mental retardation rocker-bottom feet low-set, posteriorly-rotated, malformed auricles micrognathia clenched hands with overlapping fingers crossed legs prominent occiput low birth weight undescended testicle(s) pectis carinatum congenital heart disease including ASV, VSD, PDA other less common signs that may be evident include coloboma (a hole, split, or cleft in the iris) diastasis recti umbilical or inguinal hernia(s) hydronephrosis horseshoe kidney polycystic kidney IMAGING CXR may show shortened breast bone KUB may show evidence of renal dysgenesis Echocardiogram to assess for structural heart defects STUDIES Prenatal exam of mother may show polyhydramnios, enlarged uterus, and small placenta Genetic testing can be used to confirm diagnosis and establish specific chromosomal abnormality i.e., trisomy 21 versus chromosomal translocation 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 Other congenital genetic abnormalities including Down syndrome, Patau's syndrome, and the like Treatment Prevention No preventive measures are available at this time Selective pregnancy termination has been employed following amnio/CVS Medical management there is no cure for Edward's syndrome treatment is therefore guided on a case-by-case basis depending 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 renal disease congenital heart disease mental retardation Complications Include cardiac septal defects, severe renal disease, and mental retardation Prognosis 50% of children born with this disorder do not survive the 1st week of life Most die before 1 year of age Some cases have been reported on children surviving into teenage years, though with multiple medical problems