Townes-Brocks Syndrome
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.
Townes-Brocks Syndrome 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.
Townes-Brocks Syndrome 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.