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Genetic and Rare Diseases Information Center (GARD)

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Noonan syndrome 4


Other Names for this Disease

  • NS4
  • SOS1 gene related 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.

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?

Unfortunately, there is no cure for Noonan syndrome. Treatment generally focuses on the specific signs and/or symptoms that an affected individual has. Treatment of the complications associated with Noonan syndrome is generally standard, and does not differ from treatment in the general population for each individual complication.[1] Management may require the coordinated efforts of a team of specialists.[2]

In individuals with congenital heart defects, treatment with certain medications, surgical intervention, and/or other techniques may be necessary. Any surgical procedures depend upon the location, severity, and/or combination of abnormalities and their symptoms. heart problems, arteriovenous abnormalities and/or lymphatic malformations that may be present are taken into consideration during decisions concerning surgical procedures.[2]

For those who also have thrombocytopenia, platelet dysfunction, and/or coagulation factor deficiencies, physicians, dentists, and/or other health care workers may recommend certain preventive measures before or during surgery to control possible abnormal bleeding. In addition, respiratory infections should be treated promptly and aggressively. Because of the potentially increased risk of bacterial infection of the lining of the heart (endocarditis) and the heart valves, affected individuals with certain heart defects, such as atrial septal defects, may be given medication prior to any surgical procedures (including dental procedures).[2]

In affected males with cryptorchidism, surgery should be performed to move undescended testes into the scrotum and attach them in a fixed position. This surgery is typically performed before 5 years of age to help prevent the risk of infertility.[2]

Early intervention may be important in helping children with Noonan syndrome reach their potential. Special services that may be beneficial to affected children may include special remedial education, speech therapy, physical therapy, and other medical, social, and/or vocational services. The short stature in patients with Noonan syndrome can be treated with growth hormone which has been shown to improve final adult height.[2]
Last updated: 10/1/2013

References
Other Names for this Disease
  • NS4
  • SOS1 gene related 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.