USMLE

Edwards Syndrome (Trisomy 18)

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Chromosomal Abnormalities
  1. Down Syndrome (Trisomy 21)
  2. Edwards Syndrome (Trisomy 18)
  3. Patau Syndrome (Trisomy 13)
  4. Klinefelter Syndrome
  5. Turner Syndrome
  6. Williams Syndrome
  7. Cri du Chat Syndrome
  8. Imprinting

Edward Syndrome, also called Trisomy 18, is a chromosomal defect caused by the presence of an extra chromosome 18.

Affected patients have low IQ (developmental delay), and an unique appearance including rocker-bottom feet, micrognathia (small jaw), low-set ears, clenched hands with overlapping fingers, a prominent occiput, and congenital heart disease (most commonly ASD & VSD). The syndrome is typically fatal by 1 year of age.

Find Edward Syndrome and other Chromosomal Abnormalities among Pixorize's visual mnemonics for the USMLE Step 1 and NBME Shelf Exams.