FG Syndrome

Common Name(s)

FG Syndrome

FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. "FG" represents the surname initials of the first individuals diagnosed with the disorder. People with FGS frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes, a large head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum. Medical problems including heart defects, seizures, undescended testicle, and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FGS in affected families. The condition is called FGS1 when it is caused by a change (mutation) in a gene called MED12. FGS2 is caused by mutations in the FLNA gene. The genes responsible for FGS3, FGS4, and FGS5 remain unknown. FGS is inherited in an X-linked recessive pattern.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

FG Syndrome Family Alliance, Inc.

The FG Syndrome Family Alliance, Inc. is a voluntary, 501(c)(3) nonprofit organization dedicated to enhancing the quality of life for those individuals and families affected by FG Syndrome or related disorders through education, peer support, referral, advocacy and research.

Last Updated: 3 May 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

FG Syndrome Family Alliance, Inc.

The FG Syndrome Family Alliance, Inc. is a voluntary, 501(c)(3) nonprofit organization dedicated to enhancing the quality of life for those individuals and families affected by FG Syndrome or related disorders through education, peer support, referral, advocacy and research.

http://www.fgsyndrome.org

Last Updated: 3 May 2013

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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 "FG Syndrome" returned 5 free, full-text research articles on human participants. First 3 results:

A missense mutation in CASK causes FG syndrome in an Italian family.
 

Author(s): Giulio Piluso, Francesca D'Amico, Valentina Saccone, Ettore Bismuto, Ida Luisa Rotundo, Marina Di Domenico, Stefania Aurino, Charles E Schwartz, Giovanni Neri, Vincenzo Nigro

Journal: Am. J. Hum. Genet.. 2009 Feb;84(2):162-77.

 

First described in 1974, FG syndrome (FGS) is an X-linked multiple congenital anomaly/mental retardation (MCA/MR) disorder, characterized by high clinical variability and genetic heterogeneity. Five loci (FGS1-5) have so far been linked to this phenotype on the X chromosome, but only ...

Last Updated: 13 Feb 2009

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Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene.
 

Author(s): John M Graham, Jeannie Visootsak, Elisabeth Dykens, Lillie Huddleston, Robin D Clark, Kenneth L Jones, John B Moeschler, John M Opitz, Jackie Morford, Richard Simensen, R Curtis Rogers, Charles E Schwartz, Michael J Friez, Roger E Stevenson

Journal: Am. J. Med. Genet. A. 2008 Dec;146A(23):3011-7.

 

Opitz and Kaveggia [Opitz and Kaveggia (1974); Z Kinderheilk 117:1-18] reported on a family of five affected males with distinctive facial appearance, mental retardation, macrocephaly, imperforate anus and hypotonia. Risheg et al. [Risheg et al. (2007); Nat Genet 39:451-453] identified ...

Last Updated: 27 Nov 2008

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Skewed X chromosome inactivation in carriers is not a constant finding in FG syndrome.
 

Author(s): Martine Raynaud, Sabine Dessay, Nathalie Ronce, John Opitz, Marcus Pembrey, Corrado Romano, Claude Moraine, Sylvain Briault

Journal: Eur. J. Hum. Genet.. 2003 Apr;11(4):352-6.

 

Genetic heterogeneity has been demonstrated in FG syndrome. We report a systematic study of the X-inactivation profile of obligate carriers and other females in FG pedigrees. It was expected that the characterization of particular X-inactivation profiles in carriers in some families ...

Last Updated: 17 Apr 2003

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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 "FG Syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Behavioral features in young adults with FG syndrome (Opitz-Kaveggia syndrome).
 

Author(s): John M Graham, Robin D Clark, John B Moeschler, R Curtis Rogers

Journal: Am J Med Genet C Semin Med Genet. 2010 Nov;154C(4):477-85.

 

Opitz and Kaveggia [Opitz and Kaveggia (1974); Z Kinderheilkd 117:1-18] reported on a family of five affected males with distinctive facial appearance, mental retardation, macrocephaly, imperforate anus, and hypotonia. Risheg et al. [Risheg et al. (2007); Nature Genetics 39:451-453] ...

Last Updated: 28 Oct 2010

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.