Other Names for this Disease
- Diaphragmatic hernia - abnormal face - distal limb anomalies
- Diaphragmatic hernia, abnormal face, and distal limb anomalies
- Moerman Van den berghe 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
- Fryns syndrome. Genetics Home Reference. May 2010; http://ghr.nlm.nih.gov/condition/fryns-syndrome.