Medical Definition of Edwards syndrome

  • Medical Author:
    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

Edwards syndrome: Trisomy 18 syndrome. Children with the syndrome have an extra chromosome 18 with a characteristic pattern of multiple malformations and mental retardation. Features include low birth weight, small head (microcephaly), small jaw (micrognathia), malformations of the heart and kidneys, clenched fists with abnormal finger positioning, and malformed feet. The mental retardation is profound with an IQ too low to measure. Nineteen out of 20 of these children die before their first birthday. The condition is named after the British physician and geneticist John Edwards who discovered the extra chromosome in 1960.

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Reviewed on 12/4/2018

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