Townes Brocks Syndrome
National Organization for Rare Disorders, Inc.
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 Back to top
- Imperforate Anus with Hand, Foot and Ear Anomalies
- Deafness, Sensorineural, with Imperforate Anus and Hypoplastic Thumbs
- Townes Syndrome
Disorder Subdivisions Back to top
General Discussion Back to top
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 Back to top
Alexander Graham Bell Association for the Deaf and Hard of Hearing
3417 Volta Place NW
Washington, D.C. 20007-2778
American Society for Deaf Children
800 Florida Avenue NE
Washington, DC 20002-3695
National Association of the Deaf
8630 Fenton Street
Silver Springs, MD 20910
NIH/National Eye Institute
31 Center Dr
Bethesda, MD 20892-2510
Kids With Heart ~ National Association for Children's Heart Disorders, Inc.
P.O Box 12504
Green Bay, WI 54307-2504
Little Hearts, Inc.
P.O. Box 171
110 Court Street, Suite 3A
Cromwell, CT 06416
Congenital Heart Information Network (C.H.I.N.)
101 N Washington Ave, Suite 1A
Margate City, NJ 08402-1195
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
Let Them Hear Foundation
1900 University Avenue, Suite 101
East Palo Alto, CA 94303
American Academy of Audiology
11730 Plaza America Drive, Suite 300
Reston, VA 20190
Townes-Brocks Syndrome International Support Network
Hearing Loss Association of America
7910 Woodmont Avenue
Bethesda, MD 20814
For a Complete Report Back to top
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 firstname.lastname@example.org
Last Updated: 4/6/2007
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