Townes Brocks Syndrome / Disease

Diseases & Conditions

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Townes Brocks Syndrome

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

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, Inc.
3417 Volta Place, NW
Washington D.C. 20007-2778
Phone #: 202-337-5220
800 #: 866-337-5220
e-mail: [email protected]
Home page: http://www.agbell.org
American Academy of Audiology
11730 Plaza America
Reston VA 20190
Phone #: 703-790-8466
800 #: 800-222-2336
e-mail: [email protected]
Home page: http://www.audiology.org
American Society for Deaf Children
PO Box 3355
Gettysburg PA 17325
Phone #: 800-942-6084
800 #: 800-942-2732
e-mail: [email protected]
Home page: http://www.deafchildren.org
Congenital Heart Information Network
1561 Clark Dr
Yardley PA 19067
Phone #: 215-493-3068
800 #: --
e-mail: [email protected]
Home page: http://www.tchin.org
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-519-3194
800 #: 888-205-2311
e-mail: [email protected]
Home page: http://www.genome.gov/10000409
Kids With Heart National Association for Children's Heart Disorders, Inc.
1578 Careful Dr
Green Bay WI 54304-2941
Phone #: 920-498-0058
800 #: 800-538-5390
e-mail: [email protected]
Home page: http://www.kidswithheart.org
Let Them Hear Foundation
1900 University Ave #101
East Palo Alto CA 94303
Phone #: 650-462-3143
800 #: 877-735-2929
e-mail: [email protected]
Home page: http://www.letthemhear.org
Little Hearts, Inc.
P.O. Box 171
Cromwell CT 06416
Phone #: 860-635-0006
800 #: 866-435-4673
e-mail: [email protected]
Home page: http://www.littlehearts.org
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: [email protected]
Home page: http://www.netnet.net/mums/
Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: [email protected]
Home page: http://www.madisonsfoundation.org
NIH/National Eye Institute
Building 31 Rm 6A32
Bethesda MD 20892-2510
Phone #: 301-496-5248
800 #: --
e-mail: [email protected]
Home page: http://www.nei.nih.gov/
National Association of the Deaf
814 Thayer Avenue
Silver Spring MD 20910-4500
Phone #: 301-587-1788
800 #: --
e-mail: [email protected]
Home page: http://www.nad.org
Townes-Brocks Syndrome International Support Network
None
None None None
Phone #: N/A
800 #: N/A
e-mail: N/A
Home page: http://health.groups.yahoo.com/group/Townes-Brocks-Syndrome/

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