Fraser Syndrome

Common Name(s)

Fraser Syndrome

Fraser syndrome is a rare set of birth defects, or a syndrome, caused by an error or change in the genetic code. The most common features are malformed eyes or eyes that are covered by skin, very small or absent eyes, webbed fingers and toes (cutaneous syndactyly), and genital and urinary tract anomalies including missing one or both kidneys (renal agenesis). Other findings may be present as well involving the heart, face and ears. Most individuals with Fraser syndrome are intellectually normal however about twenty percent do not live past their first year due to severe medical problems. Less severely affected persons can live well into adulthood. This syndrome affects roughly 1 in every 200,000 newborns, and 1 in every 10,000 fetuses that do not survive birth.

Fraser syndrome is autosomal recessive syndrome, meaning an individual must have two copies of the changed gene that causes the condition. A person with one changed gene would be a carrier of the condition but will not have any symptoms. If both parents are carriers, their children have a one in four chance (25%) of having the disease (by inheriting both changed copies, one from each parent). A genetic counselor or specialist can explain the cuase of Fraser syndrome in more detail.

Diagnosis can be made through a clinical examination at birth and can sometimes be made on ultrasound during pregnancy. Treatment varies on a case-by-case basis and depends on the specific birth defects present. If your baby is born with Fraser syndrome, talk with their pediatrician and specialists to discuss the most current treatment and management options. Although it may be difficult to find someone else with the same diagnosis, it may be helpful to reach out to others experiencing life with vision handicaps as this is the most common difficulty in this disorder.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fraser Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Fraser Syndrome" returned 18 free, full-text research articles on human participants. First 3 results:

Prenatal diagnosis of Fraser syndrome: a matter of life or death?
 

Author(s): Giuseppe De Bernardo, Maurizio Giordano, Antonino Di Toro, Desiree Sordino, Daniele De Brasi

Journal:

 

Fraser Syndrome is a rare, autosomal recessive syndrome. It's characterized primarily by cryptophthalmos, syndactyly and urogenital malformation. Respiratory malformations are frequently present and not taken into account. To better manage childbirth at the time of delivery it is ...

Last Updated: 31 Dec 1969

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[Fraser syndrome caused by a new mutation in the FREM2 gene].
 

Author(s): J M Lloreda-Garcia, J D González-Rodríguez, J L Leante-Castellanos

Journal: An Pediatr (Barc). 2015 Mar;82(3):207-8.

 

Last Updated: 31 Dec 1969

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Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.
 

Author(s): Stefan Kohl, Daw-Yang Hwang, Gabriel C Dworschak, Alina C Hilger, Pawaree Saisawat, Asaf Vivante, Natasa Stajic, Radovan Bogdanovic, Heiko M Reutter, Elijah O Kehinde, Velibor Tasic, Friedhelm Hildebrandt

Journal: J. Am. Soc. Nephrol.. 2014 Sep;25(9):1917-22.

 

Congenital anomalies of the kidney and urinary tract (CAKUT) account for approximately 40% of children with ESRD in the United States. Hitherto, mutations in 23 genes have been described as causing autosomal dominant isolated CAKUT in humans. However, >90% of cases of isolated CAKUT ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Fraser Syndrome" returned 6 free, full-text review articles on human participants. First 3 results:

[Bilateral cryptophthalmos in Fraser syndrome: Case report and review of the literature].
 

Author(s): A Touré, I A Diomandé, H Nouraly, R Bérété, K V Koffi, L Kodjikian

Journal: J Fr Ophtalmol. 2015 May;38(5):e97-e100.

 

Last Updated: 31 Dec 1969

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Fraser syndrome.
 

Author(s): M K Kalpana Kumari, Sulata Kamath, Vijaya V Mysorekar, G Nandini

Journal: Indian J Pathol Microbiol. ;51(2):228-9.

 

Fraser syndrome or cryptophthalmos is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos, syndactyly and abnormal genitalia. The diagnosis of this syndrome can be made on clinical examination and perinatal autopsy. We present the autopsy findings ...

Last Updated: 31 Dec 1969

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Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes.
 

Author(s): A M Slavotinek, C J Tifft

Journal: J. Med. Genet.. 2002 Sep;39(9):623-33.

 

Fraser syndrome is characterised by cryptophthalmos, cutaneous syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation, and musculoskeletal anomalies. The inheritance is autosomal recessive. No diagnostic cytogenetic ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.