Townes-Brocks syndrome

Read more about this disease, some with Classification – Types – Signs and symptoms – Genetics – Pathophysiology – Diagnosis – Screening – Prevention – Treatment and management – Cures and much more, some including pictures and video when available.

Townes-Brocks syndrome (TBS) is a rare genetic disease that affects fewer than 200 people in the entire world.[1] It affects both males and females equally.[2] The condition was first identified in 1972.[2]

TBS sufferers may have the following symptoms:[3]

Learning difficulties have been reported in some children with TBS. For others, intelligence is within the normal range.

These abnormalities, which are present prenatally, can range from minor to severe, and as with similar disorders, most individuals with this condition have some, but not all, of these traits.

TBS is an autosomal dominant multiple malformation disorder involving the a mutation of the gene SALL1, which encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin. The clinical features of TBS overlap with VATER and VACTERL associations, oculo-auriculo-vertebral (OAV) spectrum, branchio-oto-renal (BOR) syndrome, and Fanconi anemia and other ‘anus-hand-ear’ syndromes.[4]

Although some symptoms can be life-threatening, many people diagnosed with Townes-Brocks Syndrome live a normal lifespan.[2]

[tubepress mode='tag', tagValue='Townes-Brocks syndrome']