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Diseases

Genetic and Rare Diseases Information Center (GARD)

Noonan syndrome


Other Names for this Disease
  • Male Turner Syndrome
  • Noonan-Ehmke syndrome
  • Ullrich-Noonan syndrome
  • Female Pseudo-Turner Syndrome
  • Pseudo-Ullrich-Turner syndrome
Related Diseases
  • Noonan syndrome 1
  • Noonan syndrome 2
  • Noonan syndrome 3
  • Noonan syndrome 4
  • Noonan syndrome 5
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Questions Answered


7 question(s) from the public on this disease have been answered. Submit a new question.
  • My partner has a daughter from a previous relationship with typical features of Noonan syndrome . She was tested and was found to be a carrier of a mutation on the PTPN11 gene. My partner has also been tested and he has the same PTPN11 gene mutation. My partner is absolutely normal and he has no obvious features of any genetic abnormalities or disorders. He is of normal intelligence, graduated from the University and works as an engineer. I am now pregnant. What is the risk my current pregnancy will have Noonan syndrome and show symptoms of Noonan syndrome? Click here for answer

  • My daughter has Noonan syndrome. She will be 15. I understand that the onset of puberty can be delayed in kids with NS, as it was with my daughter. She didn't enter puberty until she was into her 13th year. However, as she is approaching 15 she still has not begun her menstrual cycle. Is this normal or cause for concern? Click here for answer

  • I have Noonan syndrome. I would like to know who discovered this condition and in what year. Click here for answer

  • 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

Other Names for this Disease
  • Male Turner Syndrome
  • Noonan-Ehmke syndrome
  • Ullrich-Noonan syndrome
  • Female Pseudo-Turner Syndrome
  • Pseudo-Ullrich-Turner syndrome
Related Diseases
  • Noonan syndrome 1
  • Noonan syndrome 2
  • Noonan syndrome 3
  • Noonan syndrome 4
  • Noonan syndrome 5
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.