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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 and Hard of Hearing
3417 Volta Place NW
Washington, DC 20007-2778
United States
Tel: (202)337-5220
Fax: (202)337-8314
Tel: (866)337-5220
TDD: (202)337-5221
Email: info@agbell.org
Internet: http://www.agbell.org

American Society for Deaf Children
800 Florida Avenue NE
2047
Washington, DC 20002-3695
Tel: (866)895-4206
Fax: (410)795-0965
Tel: (800)942-2732
Email: asdc@deafchildren.org
Internet: http://www.deafchildren.org

National Association of the Deaf
8630 Fenton Street
Suite 820
Silver Springs, MD 20910
USA
Tel: (301)587-1788
Fax: (301)587-1791
TDD: (301)587-1789
Email: NADinfo@nad.org
Internet: http://www.nad.org

NIH/National Eye Institute
31 Center Dr
MSC 2510
Bethesda, MD 20892-2510
United States
Tel: (301)496-5248
Fax: (301)402-1065
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
Tel: (920)498-0058
Fax: (920)498-0058
Tel: (800)538-5390
Email: michelle@kidswithheart.org
Internet: http://www.kidswithheart.org

Little Hearts, Inc.
P.O. Box 171
110 Court Street, Suite 3A
Cromwell, CT 06416
USA
Tel: (860)635-0006
Fax: (860)635-0006
Tel: (866)435-4673
Email: info@littlehearts.org
Internet: http://www.littlehearts.org

Congenital Heart Information Network (C.H.I.N.)
P.O. Box 3397
Margate City, NJ 08402-0397
Tel: (609)823-4507
Fax: (609)822-1574
Email: mb@tchin.org
Internet: http://www.tchin.org

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
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
Internet: http://rarediseases.info.nih.gov/GARD/

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

Let Them Hear Foundation
1900 University Avenue, Suite 101
East Palo Alto, CA 94303
Tel: (650)462-3174
Fax: (650)462-3144
Email: info@letthemhear.org
Internet: http://www.letthemhear.org

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

Townes-Brocks Syndrome International Support Network
Internet: http://health.groups.yahoo.com/group/Townes-Brocks-Syndrome/

Hearing Loss Association of America
7910 Woodmont Avenue
Suite 1200
Bethesda, MD 20814
Tel: (301)657-2248
Fax: (301)913-9413
Email: info@hearingloss.org
Internet: http://www.hearingloss.org

For a Complete Report:

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

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.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: February 25, 2014
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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