Edwards syndrome

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Edwards syndrome


[After John H. Edwards (1928-2007), British geneticist who first reported the trisomy causing the syndrome.]
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Differential diagnosis of these skeletal abnormalities includes thrombocytopenia absent radius syndrome, Roberts syndrome, thalidomide embryopathy, Fanconi anaemia and Edward syndrome.
Jayme Sloan told Stacey Chapman the test (called MaterniT21 PLUS) has a 99 percent detection rate--and that her three-month-old son had Edward syndrome.
Among these are Gaucher Disease, Maple Syrup Urine Disease, Pompe Disease, Galactosemia, Phenylketonuria, Methylmalonic Acidemia, Urea Cycle Defects, Hurler Syndrome, Hunter Syndrome, Prader-Willi Syndrome, Edward Syndrome, and Patau Syndrome.