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Updated: Dec 24 2021

Edwards Syndrome

  • 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)
    • 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
    • CXR
      • may show shortened breast bone
    • KUB
      • may show evidence of renal dysgenesis
    • Echocardiogram
      • to assess for structural heart defects
    • 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
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