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Prader-Willi syndrome (PWS), a spontaneous mutation in chromosome 15, occurs in one out of approximately every 15,000 live births.
1:15,000 births
Occurrence of PWS1
350,000-400,000
Estimated people worldwide with PWS2
Age 1
The age nearly all patients are diagnosed by3
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1. Lionti T, Reid SM, White SM, Rowell MM. A population-based profile of 160 Australians with Prader-Willi syndrome: trends in diagnosis, birth prevalence and birth characteristics. Am J Med Genet A. 2015;167A(2):371-378.
2. Butler MG, Hanchett JM, Thompson T. Clinical findings and natural history of Prader-Willi syndrome. In: Management of Prader-willi Syndrome, Butler MG, Lee PDK, Whitman BY (Eds), Springer, New York 2006.
3. Bar C, Diene G, Molinas C, Bieth E, Casper C, Tauber M. Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome. Orphanet Journal of Rare Diseases 2017; 12:118.
4. Bellis SA, Kuhn I, Adams S, Mullarkey L, Holland A. The consequences of hyperphagia in people with Prader-Willi syndrome: a systematic review of studies of morbidity and mortality. Eur J Med Genet 2022; 65:104379.