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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Noonan syndrome

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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 Question

I have Noonan syndrome. I would like to know who discovered this condition and in what year.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Who first described Noonan syndrome? In what year was the condition first recognized?

Noonan syndrome was first described as a specific condition in 1963 by Noonan and Ehmke. At this time, a series of patients with unusual facial features and multiple malformations, including congenital heart disease, were determined to represent a unique condition. Prior to this, these patients were thought to have a form of Turner syndrome, a condition with similar features.The fact that people with Noonan syndrome have a normal karyotype was an important distinguishing characteristic.[1]  
Last updated: 7/17/2014

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