Townes-Brocks Syndrome
Townes-Brocks Syndrome
| Contact: | Genetic Alliance Australia |
| Tel: | 61 2 9295 8359 |
| Email: | info@geneticalliance.org.au |
| 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. |
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