Updated: 3/3/2021

Edwards Syndrome

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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
  • Associated with development of multiple comorbidites including
    • congenital heart disease
    • horseshoe kidneys
     
  • Epidemiology
    • relatively common, though not as common as trisomy 21
    • more frequently observed in females > males (3:1)
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
Evaluation
  • Prenatal exam of mother
    • may show polyhydramnios, enlarged uterus, and small placenta
  • CXR
    • may show shortened breast bone
  • KUB
    • may show evidence of renal dysgenesis
  • 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
  • Other congenital genetic abnormalities including Down syndrome, Patau's syndrome, and the like
Treatment
  •  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
Prognosis, Prevention, and Complications
  • 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
  • Prevention
    • no preventive measures are available at this time
    • selective pregnancy termination has been employed following amnio/CVS
  • Complications
    • include cardiac septal defects, severe renal disease, and mental retardation

 

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