Townes–Brocks syndrome


Townes–Brocks syndrome is a rare genetic disease that has been described in approximately 200 cases in the published literature. It affects both males and females equally. The condition was first identified in 1972. by Philip L. Townes, who was at the time a human geneticists and Professor of Pediatrics, and Eric Brocks, who was at the time a medical student, both at the University of Rochester.

Signs and symptoms

TBS patients may have the following symptoms:
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.

Causes

TBS is an autosomal dominant 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 spectrum, branchio-oto-renal syndrome, and Fanconi anemia and other 'anus-hand-ear' syndromes.
Although some symptoms can be life-threatening, many people diagnosed with Townes-Brocks Syndrome live a normal lifespan.

Diagnosis

Treatment