In-depth

Complications

Pectus excavatum

Tests and diagnosis

Echocardiogram

Electrocardiogram

Genetic testing

Genetic testing is used to detect altered genes that may cause illness or disease. Although genetic testing can offer important health information, it has limitations.

Nov. 30, 2016
References
  1. Conboy E, et al. Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines. Journal of Medical Genetics. 2016;53:123.
  2. Rojnueangnit K, et al. High incidence of Noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p.Arg1809: Genotype-phenotype correlation. Human Mutation. 2015;36:1052.
  3. Rogol AD. Causes of short stature. http://www.uptodate.com/home. Accessed June 26, 2016.
  4. Roberts AE, et al. Noonan syndrome. The Lancet. 2013;381:333.
  5. National Library of Medicine. Noonan syndrome. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/noonan-syndrome. Accessed June 26, 2016.
  6. Romano AA, et al. Noonan syndrome: Clinical features, diagnosis, and management guidelines. Pediatrics. 2010;126:745.
  7. Learning about Noonan syndrome. National Human Genome Research Institute. https://www.genome.gov/25521674/learning-about-noonan-syndrome/. Accessed June 26, 2016.
  8. Noonan syndrome. Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/gard/10955/noonan-syndrome/resources/1. Accessed June 26, 2016.
  9. Noonan syndrome. National Organization for Rare Disorders. http://rarediseases.org/rare-diseases/noonan-syndrome/. Accessed June 26, 2016.
  10. Babovic-Vuksanovic D (expert opinion). Mayo Clinic, Rochester, Minn. June 29, 2016.