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Don’t fight Fryns syndrome alone.
Find your community on the free RareGuru App.Fryns syndrome is a condition that affects the development of many parts of the body. Signs and symptoms vary widely among affected individuals. Many indiivduals with this condition have defects of the diaphragm such as a congenital diaphragmatic hernia (a hole in the diaphragm present at birth). This may allow the stomach and intestines to move into the chest, which can result in pulmonary hypoplasia (underdevelopment of the lungs). Other signs and symptoms may include abnormalities of the fingers and toes; distinctive facial features; severe developmental delay and intellectual disability; and abnormalities of the brain, cardiovascular system, gastrointestinal system, kidneys, and genitalia. survival beyond the neonatal period is rare. The cause of Fryns syndrome is not known, but it is thought to be genetic and appears to be inherited in an autosomal recessive manner. Treatment may involve a team of specialists and generally involves surgical correction of internal anomalies like diaphramatic hernia.
Source: GARD Last updated on 05-01-20
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
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:
Last updated on 05-01-20
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
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