A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18. Most fetuses are aborted before term, but a live birth with this condition occurs with a frequency around 1-in-3000. Edwards syndrome is more severe than the more common Down syndrome. Edwards syndrome causes mental retardation and numerous physical defects that often cause an early infant death. ...more »
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Prognosis for Edwards Syndrome: Poor. Often spontaneous abortion, or early death after birth. Mental retardation in those that survive.
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A syndrome characterized by the presence of an extra (third) chromosome on an otherwise diploid chromosome 18 associated with a broad spectrum of variable abnormalities consisting of more than 130 individual defects of the craniofacial structures, brain, heart, kidneys, and gut. One-third of newborn infants (weighing about 2300) are premature and two-thirds are female. Fetal abnormalities consist mainly of polyhydramnios, small placenta, and single umbilical artery. Tumors in some cases. Trisomy 18 mosaicism is often associated with normal intelligence and mild phenotype. - (Source - Diseases Database)
Edwards Syndrome is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Edwards Syndrome, or a subtype of Edwards Syndrome,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Edwards Syndrome as a "rare disease".
Source - Orphanet
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