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Roberts syndrome

an autosomal recessive disorder in which a child is born with abnormally short arms and legs as well as a cleft lip and palate. Other features include microcephaly and genital hypertrophy (enlargement). Few affected individuals survive early infancy, and those who do are likely to have severe intellectual disabilities. Also called Appelt–Gerken–Lenz syndrome. [described in 1919 by John Bingham Roberts (1852–1924), U.S. physician, and in 1966 by Hans Appelt (1919–1988), Hartmut Gerken (1934–  ), and Widukind Lenz (1919–1995), German physicians]

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May 8th 2024