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Genetic and Rare Diseases Information Center (GARD)

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Fryns syndrome


Other Names for this Disease

  • Diaphragmatic hernia, abnormal face, and distal limb anomalies
  • FRNS
  • Moerman Van den berghe Fryns 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

What are the chances of having a normal baby after having a baby diagnosed with Fryns syndrome?

Our Answer

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

How is Fryns syndrome inherited?

Although the exact cause of Fryns syndrome is not currently known (and no disease-causing gene has yet been identified), it is thought to be genetic because it tends to "run in families" and has features common to other genetic disorders. It appears to be inherited in an autosomal recessive manner.[1] This means that both copies of the disease-causing gene in each cell of the body (one copy inherited from each parent) have mutations. The parents of an affected individual are referred to as carriers, who typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
Last updated: 11/29/2011

What are the chances of having a normal baby after having a baby diagnosed with Fryns syndrome?

For conditions that are inherited in an autosomal recessive manner, the risk for each child conceived by the same parents to be affected or unaffected is the same. Because Fryns syndrome is thought to be inherited in an autosomal recessive manner, when both parents are assumed to be carriers (due to having had an affected child) each child has a 25% (1 in 4) risk to have the condition. This also means that there is a 75% (3 in 4) chance that each child will not be affected. However, on average, any child in the general population has approximately a 3-4% risk to have a birth defect, genetic disorder or intellectual disability.
Last updated: 11/29/2011

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 6/5/2014

References
Other Names for this Disease
  • Diaphragmatic hernia, abnormal face, and distal limb anomalies
  • FRNS
  • Moerman Van den berghe Fryns 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.