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Townes Brocks Syndrome

Abstract

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Synonyms of Townes Brocks Syndrome

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

Disorder Subdivisions

No subdivisions found.

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.

Organizations related to Townes Brocks Syndrome

Alexander Graham Bell Association for the Deaf and Hard of Hearing
- 3417 Volta Place NW
- Washington, DC 20007-2778 United States
- Phone #: 202-337-5220
- 800 #: 866-337-5220
- e-mail: info@agbell.org
- Home page: http://www.agbell.org
American Academy of Audiology
- 11730 Plaza America Drive, Suite 300
- Reston, VA 20190
- Phone #: 703-790-8466
- 800 #: 800-222-2336
- e-mail: infoaud@audiology.org
- Home page: http://www.audiology.org
American Society for Deaf Children
- 800 Florida Avenue NE
- 2047
- Washington, DC 20002-3695
- Phone #: 866-895-4206
- 800 #: 800-942-2732
- e-mail: asdc@deafchildren.org
- Home page: http://www.deafchildren.org
Congenital Heart Information Network (C.H.I.N.)
- P.O. Box 3397
- Margate City, NJ 08402-0397
- Phone #: 609-823-4507
- 800 #: --
- e-mail: mb@tchin.org
- Home page: http://www.tchin.org
Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
- Phone #: 301-251-4925
- 800 #: 888-205-2311
- e-mail: N/A
- Home page: http://rarediseases.info.nih.gov/GARD/
Hearing Loss Association of America
- 7910 Woodmont Avenue
- Suite 1200
- Bethesda, MD 20814
- Phone #: 301-657-2248
- 800 #: N/A
- e-mail: info@hearingloss.org
- Home page: http://www.hearingloss.org
Kids With Heart ~ National Association for Children's Heart Disorders, Inc.
- 1578 Careful Dr.
- Green Bay, WI 54304
- Phone #: 920-498-0058
- 800 #: 800-538-5390
- e-mail: michelle@kidswithheart.org
- Home page: http://www.kidswithheart.org
Let Them Hear Foundation
- 1900 University Avenue, Suite 101
- East Palo Alto, CA 94303
- Phone #: 650-462-3174
- 800 #: N/A
- e-mail: info@letthemhear.org
- Home page: http://www.letthemhear.org
Little Hearts, Inc.
- P.O. Box 171
- 110 Court Street, Suite 3A
- Cromwell, CT 06416 USA
- Phone #: 860-635-0006
- 800 #: 866-435-4673
- e-mail: info@littlehearts.org
- Home page: http://www.littlehearts.org
Madisons Foundation
- PO Box 241956
- Los Angeles, CA 90024
- Phone #: 310-264-0826
- 800 #: N/A
- e-mail: getinfo@madisonsfoundation.org
- Home page: http://www.madisonsfoundation.org
MUMS National Parent-to-Parent Network
- 150 Custer Court
- Green Bay, WI 54301-1243 USA
- Phone #: N/A
- 800 #: N/A
- e-mail: mums@netnet.net
- Home page: http://www.netnet.net/mums/
National Association of the Deaf
- 8630 Fenton Street
- Suite 820
- Silver Springs, MD 20910 USA
- Phone #: 301-587-1788
- 800 #: --
- e-mail: NADinfo@nad.org
- Home page: http://www.nad.org
NIH/National Eye Institute
- 31 Center Dr
- MSC 2510
- Bethesda, MD 20892-2510 United States
- Phone #: 301-496-5248
- 800 #: --
- e-mail: 2020@nei.nih.gov
- Home page: http://www.nei.nih.gov/
Townes-Brocks Syndrome International Support Network
- Phone #: N/A
- 800 #: N/A
- e-mail: N/A
- Home page: http://health.groups.yahoo.com/group/Townes-Brocks-Syndrome/

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