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Edwards syndrome (John Hilton Edwards)

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A severe and complex syndrome with very poor prospects of survival and development, associated with more than 130 abnormalities. Main features include low birth weight, mental retardation, abnormal skull shape, lowset and malformed ears, small mandible, triangular mouth, cardiac defects, shield-like chest, 11 pairs of ribs, diaphragmatic or inguinal hernia, Meckel's diverticulum, dorsiflexion of the big toes (rocker-bottom feet), webbed fingers with abnormal flexion, enlarged external genitalia, webbing of the neck, and dermatoglyphic anomalies. Prevalent in females; paternal and maternal age above normal; onset from foetal life. Death usually occurs within six months. The condition is caused by autosomal trisomy of chromosome 18.


  • J. H. Edwards, D. G. Harnden, A. H. Cameron, V. M. Crosse, O. H. Wolff:
    A new trisomic syndrome. The Lancet, London, 1960, 1: 787-790.

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