Townes-Brocks Syndrome (TBS)

Record ID 32011000871
Authors' objectives:

Townes-Brocks syndrome (TBS) is a rare autosomal dominant disorder. It is characterized by the presence of at least two anal, hand, or ear malformations. Expression of TBS is variable and may include deafness, renal malformations, mild to moderate intellectual disability, heart abnormalities, eye abnormalities, foot malformations, genitourinary malformations, and growth retardation. The prevalence of TBS has not been accurately determined. TBS is associated with sequence variants in the sal-like 1 (Drosophila) (SALL1) gene, which is most highly expressed in the kidney, brain, and liver. Sequence variants in the SALL1 gene that are associated with TBS are mostly private, meaning that different families with TBS usually do not have the same sequence variants. Diagnosis of TBS can be problematic due to the overlap of symptoms of TBS with a number of similar syndromes. Management of TBS involves treatment of manifestations of the disorder and regular surveillance for emergent symptoms, especially renal failure.

Project Status: Completed
Year Published: 2010
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: United States
MeSH Terms
  • Mutation
  • Syndrome
Organisation Name: HAYES, Inc.
Contact Address: 157 S. Broad Street, Suite 200, Lansdale, PA 19446, USA. Tel: 215 855 0615; Fax: 215 855 5218
Contact Name:
Contact Email:
Copyright: 2010 Winifred S. Hayes, Inc
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