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USMLE Step 1

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Chromosomal Abnormalities

Edwards Syndrome (Trisomy 18) USMLE

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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.