FG Syndrome Type 1

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report FG Syndrome Type 1 is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Opitz-Kaveggia Syndrome
  • FGS1

Disorder Subdivisions

  • None

General Discussion

FG syndrome type 1 (FGS1) is an X-linked genetic disorder that is characterized by poor muscle tone (hypotonia), mental retardation, constipation and or anal anomalies and complete or partial absence of the part of the brain that connects the two hemispheres of the brain (corpus callosum). Other features of the disorder are small and simple ears, tall and prominent forehead, wide and flat thumbs and great toes and downslanting eyes.

FGS1 is an X-linked genetic disorder caused by a recurrent abnormality (mutation) in the MED12 gene. The spectrum of disorders caused by mutations in this gene is still being defined. Some individuals previously diagnosed with FG syndrome do not have a MED12 gene mutation and, therefore, probably have a different reason for mental retardation.

Resources

Opitz, John M., M.D.
Division of Medical Genetics
2C 412 SOM
50 North Medical Dr
Salt Lake City, UT 84132
Tel: (801)581-8943
Fax: (801)585-7252
Email: john.opitz@hsc.utah.edu

FG Syndrome Family Alliance
946 NW Circle Blvd #290
Corvallis, OR 97330
Tel: (617)577-9050
Email: info@fg-syndrome.org
Internet: http://www.fg-syndrome.org

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

For a Complete Report

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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