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Genetic and Rare Diseases Information Center (GARD)

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Noonan syndrome 5


Other Names for this Disease
  • NS5
  • RAF1 gene related Noonan syndrome
Related Diseases
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Your Question

Are males with Noonan syndrome able to father children? What is the risk to offspring of affected individuals?

Our Answer

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

What is Noonan syndrome?

Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body.[1] Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay.[2][3] Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes.[4] It is sometimes referred to as a specific subtype based on the responsible gene in an affected person. Noonan syndrome is typically inherited in an autosomal dominant manner but many cases are due to a new mutation and are not inherited from an affected parent.[2][3]
Last updated: 6/2/2015

Are males with Noonan syndrome capable of fathering children (fertile)?

Male pubertal development and subsequent fertility may be normal, delayed, or inadequate.[5] Sixty to eighty percent of males with Noonan syndrome have undescended testicles (cryptorchidism) which can lead to infertility (inability to father a child) later in life.[1][2][5]
Last updated: 3/2/2010

How is Noonan syndrome inherited?

Noonan syndrome is inherited in an autosomal dominant manner. This means that having one changed (mutated) copy of the responsible gene in each cell is enough to cause the condition. Each child of a person with Noonan syndrome has a 50% (1 in 2) chance to inherit the condition.

In some cases, the condition is inherited from an affected parent. Because the features of the condition can vary and may be very subtle, many affected adults are diagnosed only after the birth of a more obviously affected infant. In other cases, the condition is caused by a new mutation occurring for the first time in the affected person.[6]
Last updated: 6/2/2015

Are the children of an individual with Noonan syndrome at risk to inherit the condition?

Each child of an individual with Noonan syndrome has a 50% chance of inheriting the mutation.[3][5]
Last updated: 3/2/2010

References
Other Names for this Disease
  • NS5
  • RAF1 gene related Noonan syndrome
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.