Fryns syndrome

What causes Fryns syndrome?

Although the exact cause of Fryns syndrome is unknown, it is thought to be genetic because it tends to "run in families" and has features common to other genetic disorders. Several chromosomal abnormalities involving chromosome bands 15q26.2 and 8p23.1 have been reported in some individuals with the condition, but no specific disease-causing gene has yet been identified.

Last updated on 05-01-20

How is Fryns syndrome inherited?

Fryns syndrome 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) chance to be affected
  • 50% (1 in 2) chance to be an unaffected carrier like each parent
  • 25% (1 in 4) chance to be unaffected and not be a carrier

Last updated on 05-01-20

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 on 05-01-20

Name: March of Dimes 1275 Mamaroneck Avenue
White Plains, NY, 10605, United States
Phone: 914-997-4488 Toll Free: 888-663-4637 Fax : 914-997-4763 Email: Url:

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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