Trisomy 18 (Edwards Syndrome)
Definition
Micrognathia, low-set ears, flexion deformity of the fingers, and congenital
heart disease characterize this syndrome.
Epidemiology
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Second to trisomy 21 in frequency
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Occurs in about 1/8000 live births
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Higher risk of spontaneous death in utero
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Most cases are due to a complete trisomy 18
Clinical Features
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Small for gestation age
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Post-dates
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Prominent occiput
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Micrognathia and narrow palate
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Cleft lip and/or palate
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Narrow bifrontal diameter
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Narrow nose
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Tight palpebral fissures
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Low-set, malformed ears
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Congenital heart disease (VSD, PDA, ASD)
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Short sternum
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Limited hip abduction
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Rocker-bottom feet
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Clenching of the hands (second finger overlapping the third, fifth overlapping
the fourth)
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Hypoplastic nails
Diagnosis
Prognosis
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A large proportion die in the immediate neonatal period, usually secondary
to cardiac disease. Very few survive one year.
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Last modification: February 21, 1998