Noonan syndrome genetic counseling

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Serge Korjian, Yazan Daaboul


Since Noonan syndrome is inherited in an autosomal dominant pattern, adequate genetic counseling prior to conception is recommended especially in parents with family history of a similar syndrome. During pregnancy, appropriate counseling for parents whose infant was antenatally diagnosed with Noonan syndrome is required to guide the diagnostic, management, and follow-up plans.

Genetic Counseling

Prior to Conception

Noonan syndrome transmission can be variable but most reported cases are due to autosomal dominant inheritance. Preconception genetic counseling should include:[1]

  • Detailed review of the family tree for at least three generations, with emphasis on skin and cardiac anomalies, short stature and cognitive and intellectual difficulties.
  • Complete clinical examination of parents with detailed workup including an ECG and an echocardiogram.

During Pregnancy

  • If antenatal diagnosis of Noonan syndrome is considered, counseling of the parents is essential before the child is born and includes:
  • Explaining the mechanism of occurence on Noonan syndrome and the familial risk of genetic transmission.
  • Reviewing the major manifestations and natural history of the disorder with special emphasis on its variability and unpredictability.
  • Discussing required tests to confirm the diagnosis, including the proper work-up to be performed when the child is born
  • Reviewing the available treatments and long-term management plans.
  • Discussing available options for the care and follow-up of the child.[1][2]


  1. 1.0 1.1 van der Burgt I (2007). "Noonan syndrome". Orphanet J Rare Dis. 2: 4. doi:10.1186/1750-1172-2-4. PMC 1781428. PMID 17222357.
  2. Sarkozy A, Digilio MC, Dallapiccola B (2008). "Leopard syndrome". Orphanet J Rare Dis. 3: 13. doi:10.1186/1750-1172-3-13. PMC 2467408. PMID 18505544.

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