Genetics and Fryns syndrome

Genetic Changes

The cause of Fryns syndrome is unknown. The disorder is thought to be genetic because it tends to run in families and has features similar to those of other genetic disorders. Duplications and deletions in several chromosome regions have been associated with congenital diaphragmatic hernia and some of the other features of Fryns syndrome . However, no specific genetic change has been found to cause all of the signs and symptoms of this disorder.

Source: GHR (NLM/NIH)1

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Inheritance Pattern

Fryns syndrome appears to be inherited in an autosomal recessive pattern , which means both copies of a gene in each cell have mutations. However, no associated gene has been identified. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.

Source: GHR (NLM/NIH)2

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Inheritance

Fryns syndrome appears to be inherited in an autosomal recessive manner.[1, 2][3] 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: 9/25/2016

Source: GARD (NIH)3

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Modes of inheritance

Autosomal recessive inheritance (HPO, OMIM, Orphanet)

Source: GTR (NCBI/NIH)4

Inheritance of Fryns syndrome

Genetic and familial features of the condition may include:5 Genetics of Fryns Syndrome:

  • Autosomal recessive inheritance


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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ fryns-syndrome
  2. ibid.
  3. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 3699/ fryns-syndrome
  4. Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr/ conditions/ C0220730/ 
  5. Source: Human Phenotype Ontology

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