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Genetic and Rare Diseases Information Center (GARD)

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Peutz Jeghers syndrome

Other Names for this Disease
  • Lentiginosis, perioral
  • Periorificial lentiginosis syndrome
  • Peutz-Jeghers polyposis
  • PJS
  • Polyposis, hamartomatous intestinal
More Names
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Is Peutz-Jeghers syndrome (PJS) inherited?

Peutz-Jeghers syndrome (PJS) is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing noncancerous polyps and cancerous tumors. In about half of cases, an affected person inherits a mutation in the STK11 gene from one affected parent. The remaining cases occur in people with no history of PJS in their family. These cases appear to result from new mutations in the STK11 gene.[1]
Last updated: 3/4/2010

  1. Peutz-Jeghers syndrome. Genetics Home Reference (GHR). 2006; Accessed 9/3/2009.