Call Us: +61 2 9295 8359
Follow Us:

Townes-Brocks Syndrome

Townes-Brocks Syndrome

Contact: Genetic Alliance Australia
Tel: 61 2 9295 8359
Website Click here
More info: C/- The Garvan Institute of Medical Research Level 6, 384 Victoria St Darlinghurst NSW 2010
About: Townes-Brocks syndrome is a genetic condition present at birth. Symptoms of this condition and the severity of these symptoms vary from person to person. Major features of the condition may include absence of an anal opening and hand, foot and ear abnormalities. Hearing loss or deafness due to lesions or dysfunctions of part of the internal ear or its nerve system (sensorineural hearing loss or deafness) is present in some individuals. Abnormalities of the kidneys and less commonly the heart, may also be present. Townes-Brocks syndrome follows a pattern of inheritance in families called autosomal dominant inheritance. The faulty gene for this condition has been found on the long ‘q’ arm of chromosome number 16 more specifically at 16q12.1, in the sal-like 1 (SALL1) gene.
Useful links: Townes-Brocks Syndrome Group (international)

Latest Tweets

Our mission statement

To facilitate support for those affected directly or indirectly by genetic conditions throughout Australasia.

make a donation
Help Support Genetic Alliance Australia

Click on Bert, the Genetic Alliance Frog - to make a donation. All donations over $2 are tax deductible.
ABN  83 594 113 193  |  ACN 168918625  |   Registered Charity CFN  15481

We are members of
Supported by
Quick Links
Contact Us

Level 6
384 Victoria Street
Darlinghurst ,  NSW   2010

Connect with us
Registered Charity
© 2021 Genetic Alliance Australia. All right reserved.   |   Disclaimer & Privacy Policy
+61 2 9295 8359