Edwards syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on the 18th chromosome, either in whole (eg, trisomy 18) or in part (eg, due to translocations). It is named after John H. Edwards, who first described the syndrome in 1960.
Edwards syndrome (trisomy 18) is the second most common trisomy. This condition occurs in about 1 in 5,500 live births, and the risk also increases with increasing maternal age. Approximately 80% of those affected are female. About half of babies born with trisomy 18 die within the first week of life and only five to ten percent survive to one year. Those individuals who survive have considerable intellectual disability.
Edwards' syndrome is associated with a broad spectrum of abnormalities which consist of greater than 130 discrete defects involving the brain, heart, craniofacial structures, kidneys, and stomach.
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