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Diseases

Genetic and Rare Diseases Information Center (GARD)

FG syndrome


Other Names for this Disease
  • FGS
  • Opitz-Kaveggia syndrome
  • FGS1
  • Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum
  • Keller syndrome
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Overview

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 FG syndrome 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 FG syndrome in affected families.[1] Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1.[1][2][3] Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and  BRWD3 (FGS7).[1][2][4] FGS is inherited in an X-linked recessive pattern.[1] Individualized early intervention and educational services are important so that each child can reach their fullest potential.[3] 
Last updated: 3/16/2016

References

  1. FG syndrome. Genetics Home Reference. December 2012; https://ghr.nlm.nih.gov/condition/fg-syndrome.
  2. Opitz J. FG syndrome. Orphanet. May 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=323.
  3. Lyons MJ. MED12-Related Disorders. GeneReviews. June 6, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1676/.
  4. OPITZ-KAVEGGIA SYNDROME. Online Mendelian Inheritance in Man (OMIM). March 21, 2012; http://www.omim.org/entry/305450.
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Basic Information

  • Genetics Home Reference (GHR) contains information on FG syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
    FG syndrome 1
    FG syndrome 2
    FG syndrome 3
    FG syndrome 4
    FG syndrome 5
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss FG syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • FGS
  • Opitz-Kaveggia syndrome
  • FGS1
  • Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum
  • Keller syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.