How Much of the Phenotype of Prader-Willi Syndrome is due to Growth Hormone Deficiency?
Suzanne B. Cassidy1, Ellen Simpson1, Shauna Heeger2 1Division of Human Genetics, Department of Pediatrics, University of California, Irvine, 101 The City Drive, Bldg 2, Orange, CA 92868, (714) 456-6261, and 2Case Western Reserve University. The classical physical phenotype of Prader-Willi syndrome (PWS) is most notable for hypotonia, characteristic facial appearance (narrow bifrontal diameter, almond-shaped and sometimes upslanting palpebral fissures, downturned mouth), short stature, central obesity, small hands and feet, genu valgus, decreased muscle mass causing characteristic body habitus, straight ulnar borders and straight calf borders, and hypoplastic genitalia. In recent years, the short stature has been associated with growth hormone deficiency (hGH), as has altered body composition. PWS is now an FDA approved indication for the use of hGH, and it is becoming standard of care. Most newly diagnosed individuals are being treated from the time of diagnosis or shortly thereafter,
