Townes Brocks Syndrome

Important
It is possible that the main title of the report Townes Brocks 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

Imperforate Anus with Hand, Foot and Ear Anomalies
Deafness, Sensorineural, with Imperforate Anus and Hypoplastic Thumbs
Townes Syndrome

Disorder Subdivisions

None

General Discussion

Townes-Brocks syndrome (TBS) is an autosomal dominant genetic disorder characterized by absence of the anal opening (imperforate anus), abnormal ears associated with hearing impairment and thumb malformations. Abnormalities in the feet, heart and kidneys also occur frequently. Townes-Brocks syndrome is associated with a mutation in the SALL1 gene.

Resources

Alexander Graham Bell Association for the Deaf, Inc.
3417 Volta Place, NW
Washington, D.C. 20007-2778
United States
Tel: 2023375220
Fax: 2023378314
Tel: 8663375220
Email: info@agbell.org
Internet: http://www.agbell.org

American Society for Deaf Children
PO Box 3355
Gettysburg, PA 17325
Tel: (800)942-6084
Fax: (717)334-8808
Tel: (800)942-2732
TDD: (717)334-7922
Email: ASDC1@aol.com
Internet: http://www.deafchildren.org

National Association of the Deaf
814 Thayer Avenue
Suite 250
Silver Spring, MD 20910-4500
USA
Tel: 3015871788
Fax: 3015871791
TDD: 3015871789
Email: NADinfo@nad.org
Internet: http://www.nad.org

NIH/National Eye Institute
Building 31 Rm 6A32
31 Center Dr MSC 2510
Bethesda, MD 20892-2510
United States
Tel: 3014965248
Fax: 3014021065
Email: 2020@nei.nih.gov
Internet: http://www.nei.nih.gov/

Kids With Heart National Association for Children's Heart Disorders, Inc.
1578 Careful Dr
Green Bay, WI 54304-2941
Tel: (920)498-0058
Fax: (920)498-0058
Tel: (800)538-5390
Email: kidswithheart@greenbaynet.com
Internet: http://www.kidswithheart.org

Little Hearts, Inc.
P.O. Box 171
Cromwell, CT 06416
USA
Tel: 8606350006
Fax: 8606350006
Tel: 8664354673
Email: info@littlehearts.org
Internet: http://www.littlehearts.org

Congenital Heart Information Network
1561 Clark Dr
Yardley, PA 19067
Tel: (215)493-3068
Fax: (215)493-3068
Email: mb@tchin.org
Internet: http://www.tchin.org

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)519-3194
Fax: (240)632-9164
Tel: (888)205-2311
TDD: (888)205-3223
Email: gardinfo@nih.gov
Internet: http://www.genome.gov/100000409 or http://rarediseases.info.nih.gov/html/resources/info_cntr.html

Let Them Hear Foundation
1900 University Ave #101
East Palo Alto, CA 94303
Tel: (650)462-3143
Fax: (650)462-3143
Tel: (877)735-2929
Email: info@letthemhear.org
Internet: http://www.letthemhear.org

American Academy of Audiology
11730 Plaza America
#300
Reston, VA 20190
Tel: (703)790-8466
Fax: (703)790-8631
Tel: (800)222-2336
Email: info@audiology.org
Internet: http://www.audiology.org

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: 4/6/2007
Copyright 1990, 1999, 2007 National Organization for Rare Disorders, Inc.

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