Townes-Brocks syndrome , TBS (skrót)
renal-ear-anal-radial syndrome

Townes-Brocks syndrome is associated with a mutation in the SALL1 gene.

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

Townes-Brocks syndrome (TBS) is a rare genetic disease that affects fewer than 200 people in the entire world.

Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as branchio-oto-renal syndrome (BOR).

Holt-Oram syndrome, Fanconi anemia: aplastic anemia at the age of 6, Townes-Brocks syndrome, Greig cephalopolysyndactyly: also occurs with ulnar polydactyly.

"Townes-Brocks Syndrome: Report of Three Additional Patients with Previously Undescribed Renal and Cardiac Abnormalities," Dysmorphology and Clinical Genetics 2: 104, 1988.