Townes-Brocks Syndrome

Below you will find more information about Townes-Brocks Syndrome from Medigest. If you believe that you are suffering from any of the symptoms of Townes-Brocks Syndrome it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Townes-Brocks Syndrome and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Townes-Brocks Syndrome comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

Definition

Townes-Brocks syndrome (TBS) is a rare genetic disease that affects fewer than 200 people in the whole world. It is a genetic condition that affects several parts of the body.

Symptoms and Signs

Typical features of this condition are an obstruction of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumb. Most people with this condition possess at least two of these three major features. Other possible signs and symptoms of TBS include kidney abnormalities, mild to profound hearing loss, heart defects, and genital malformations. These features vary among individuals affected with TBS, even within the same family. Mental retardation or learning disabilities have also been reported approximately 10 percent of people with Townes-Brocks syndrome.

Causes

TBS is an autosomal dominant multiple malformation disorder concerning the a mutation of the gene SALL1, which encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin.

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