Fraser syndrome

What causes Fraser syndrome?

Fraser syndrome is a genetic (inherited) disorder. It is caused by mutations in three different genes: FRAS1 , GRIP1 , and FREM2. _The _FRAS1 and FREM2 genes codes for proteins that work together and are involved in the proper development of the skin, internal organs, and other tissues. The GRIP1 gene codes for the GRIP1 protein, which ensures that the FRAS1 and FREM2 proteins get to the correct location of the cell to work together. Mutations in these genes are thought to impair the ability of the FRAS1 and FREM2 proteins, resulting in abnormal development of certain organs and tissues before birth.

Last updated on 05-01-20

How is Fraser syndrome diagnosed?

Fraser syndrome is diagnosed based on the signs and symptoms found in each individual. Many different researchers have proposed diagnostic guidelines based on a certain number of symptoms considered to be major (or common) criteria and a certain number of symptoms considered to be minor (or less common) criteria. Although there is some debate regarding what is classified as major versus minor criteria, most researchers agree that a diagnosis is made based on the finding of 3 major criteria, or 2 major and 2 minor criteria, or 1 major and 3 minor criteria.

Genetic testing may additionally be useful to confirm the diagnosis.

Last updated on 05-01-20

How is Fraser syndrome inherited?

Fraser syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of one of the three responsible genes ( FRAS1 , GRIP1 , or FREM2 ) in each cell. Individuals with Fraser syndrome inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected) and often do not know they are carriers until they have an affected child. When 2 carriers of an autosomal recessive condition have children, each child has a:

  • 25% chance to be affected
  • 50% chance to be an unaffected carrier like each parent
  • 25% chance to be unaffected and not a carrier

Last updated on 05-01-20

What is the long-term outlook for Fraser syndrome?

The long-term outlook (prognosis) for Fraser syndrome differs depending on the severity of the signs and symptoms present. Fraser syndrome can be fatal before or shortly after birth in approximately 40% of cases. Abnormalities of the central nervous system, larynx (voice box) and pharynx (windpipe); absent or underdeveloped kidneys; and respiratory insufficiency may lead to a poor prognosis. In the absence of these findings, individuals may have a normal life span.

Last updated on 05-01-20

How common is Fraser syndrome?

Approximately 250 cases of Fraser syndrome have been reported throughout the world. It is estimated that Fraser syndrome occurs in about 1 out of 500,000 individuals in Europe (including those that pass away before or shortly after birth). It is possible that there are more individuals with Fraser syndrome who have not been diagnosed, given the similarity of symptoms to other conditions and the potential for more mild cases.

Last updated on 05-01-20

How might Fraser syndrome be treated?

At this time, there is no cure for Fraser syndrome. Treatment varies depending on the severity of symptoms present in each individual. Some malformations may be corrected with surgery. A team of specialists is needed to evaluate each individual and determine what methods can be used to manage or treat each symptom.

Last updated on 05-01-20

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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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