FG Syndrome Type 1

Important
It is possible that the main title of the report FG Syndrome Type 1is not the name you expected.

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
john.opitz@hsc.utah.eduFG Syndrome Family Alliance
946 NW Circle Blvd 290
Corvallis
OR
97330
Tel: (617)577-9050
info@fg-syndrome.org
http://www.fg-syndrome.org

MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay
WI
54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
800: (877)336-5333
mums@netnet.net
http://www.netnet.net/mums/

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

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated: 10/6/2008
Copyright 1991, 1999, 2007, 2008 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: October 06, 2008

This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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Prescribing Information

Indication
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Important Safety Information
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