KBG Syndrome

Important
It is possible that the main title of the report KBG Syndromeis not the name you expected.

Synonyms

Short Stature, Facial/Skeletal Anomalies-Retardation-Macrodontia

Disorder Subdivisions

None

General Discussion

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

Children's Craniofacial Association
13140 Coit Road
Suite 517
Dallas
TX
75240
USA
Tel: (214)570-9099
Fax: (214)570-8811
800: (800)535-3643
csmith@ccakids.com
http://www.ccakids.com

FACES: The National Craniofacial Association
P.O. Box 11082
Chattanooga
TN
37401
Tel: (423)266-1632
Fax: (423)267-3124
800: (800)332-2373
faces@faces-cranio.org
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
800: (800)433-5255
TDD: (817)277-0553
info@thearc.org
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
vietcoat@ix.netcom.comNIH/National Institute of Dental and Craniofacial Research
Tel: (301)496-4261
Fax: (301)496-9988
nidcr@nih.gov
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
http://www.nih.gov/hichd/

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: 4/25/2008
Copyright 1996, 2003 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: April 25, 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.