KBG Syndrome

Important

It is possible that the main title of the report KBG Syndrome 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

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• Short Stature, Facial/Skeletal Anomalies-Retardation-Macrodontia

Disorder Subdivisions

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• None

General Discussion

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KBG syndrome is a very rare genetic disorder characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton. Abnormalities of the head and face (craniofacial dysmorphism) and malformations of the teeth and jaws (dento- skeletal dysplasia) may also be present. The exact cause of KBG syndrome is unknown, but most cases are believed to be autosomal dominant traits with variable degree of penetrance.

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Resources

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Children's Craniofacial Association

13140 Coit Road

Suite 307

Dallas, TX 75240

USA

Tel: 2145709099

Fax: 2145708811

Tel: 8005353643

Email: csmith@ccakids.com

Internet: http://www.ccakids.com



FACES: The National Craniofacial Association

P.O. Box 11082

Chattanooga, TN 37401

Tel: (423)266-1632

Fax: (423)267-3124

Tel: (800)332-2373

Email: faces@faces-cranio.org

Internet: http://www.faces-cranio.org



The Arc (a national organization on mental retardation)

1010 Wayne Ave

Suite 650

Silver Spring, MD 20910

Tel: (301)565-3842

Fax: (301)565-3843

Tel: (800)433-5255

TDD: (817)277-0553

Email: info@thearc.org

Internet: http://www.thearc.org/



New York State Institute for Basic Research in Developmental Disabilities

1050 Forest Hill Road

Staten Island, NY 10314

Tel: (718)494-0600

Fax: (718)698-3803

TDD: (718)494-5117

Email: vietcoat@ix.netcom.com



NIH/National Institute of Dental and Craniofacial Research



Tel: (301)496-4261

Fax: (301)496-9988

Email: nidcr@nih.gov

Internet: http://www.nidcr.nih.gov/



NIH/National Institute of Child Health and Human Development

31 Center Dr

Building 31, Room 2A32

MSC2425

Bethesda, MD 20892

Tel: (301)496-5133

Fax: (301)496-7101

Internet: http://www.nih.gov/hichd/

For a Complete Report

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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:   7/25/2003

Copyright   1996, 2003 National Organization for Rare Disorders, Inc.