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Diseases

Genetic and Rare Diseases Information Center (GARD)

Noonan syndrome


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

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.

Our Answer

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

How might Noonan syndrome be treated?

Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population.[1]

Developmental disabilities are addressed by early intervention programs and individualized education strategies. Treatment for serious bleeding depends upon the specific factor deficiency or platelet abnormality. Growth hormone treatment increases growth velocity.[1]

More detailed information about treatment for Noonan syndrome can be viewed on the GeneReviews Web site.
Last updated: 6/2/2015

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.