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Genetic and Rare Diseases Information Center (GARD)

Other Names for this Disease
  • Female Pseudo-Turner Syndrome
  • Male Turner Syndrome
  • Noonan-Ehmke syndrome
  • Pseudo-Ullrich-Turner syndrome
  • Ullrich-Noonan syndrome
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Your Questions Answered

4 question(s) from the public on this disease have been answered. Submit a new question.
  • Where can I find information about life expectancy for Noonan Syndrome? Click here for answer

  • My granddaughter was diagnosed from a genetic blood test with Noonan syndrome, and has a mutation in the SOS1 gene. She is only 3 months old and has already had 3 operations due to stridor. She also has a heart murmur and pulmonary stenosis. She is not eating and has had to have a feeding tube. My daughter and son-in-law need help in knowing what is best to do for her. Click here for answer

  • Has there been any genetic link found between Noonan syndrome and cherubism? I have both, and no family history of either condition. My front teeth feel like they are being compressed and it is very painful, but nothing I read about cherubism mentions pain; is there information anywhere about this? Are there any good resources, or is there any research, that you could direct me to for more information? Click here for answer

  • Are males with Noonan syndrome able to father children? What is the risk to offspring of affected individuals? Click here for answer