Other Names for this Disease
- Moerman Van den berghe Fryns syndrome
- Diaphragmatic hernia, abnormal face, and distal limb anomalies
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Your QuestionWhat are the chances of having a normal baby after having a baby diagnosed with Fryns syndrome?
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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. 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
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
To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
Last updated: 7/15/2016
- Fryns syndrome. Genetics Home Reference. May 2010; http://ghr.nlm.nih.gov/condition/fryns-syndrome.