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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
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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] Characteristics of the syndrome 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, KRASRAF1SOS1NRAS and BRAF genes.[4] It is sometimes referred to as a specific subtype based on the specific, mutated gene that causes the syndrome in an affected individual. It is typically inherited in an autosomal dominant manner, although in many individuals with Noonan syndrome, the mutation occurs for the first time and neither of the parents has the condition.[2][3]
Last updated: 9/28/2012

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, which means one copy of the altered gene in each cell is sufficient to cause the condition.[2][3][5] Each child of an individual with Noonan syndrome has a 50% (1 in 2) chance to inherit the condition.

In about one-third to two-thirds of families, one of the parents also has Noonan syndrome.[3] In other families, the condition results from a new mutation in the gene and there is no history of the condition in the family.[2]
Last updated: 10/1/2013

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