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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Townes-Brocks syndrome


Other Names for this Disease
  • Anus, imperforate, with hand, foot and ear anomalies
  • Deafness, sensorineural, with imperforate anus and hypoplastic thumbs
  • Imperforate anus with hand, foot and ear anomalies
  • Rare genetic disease
  • REAR syndrome
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Tests & Diagnosis

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How is Townes-Brocks syndrome diagnosed?

Townes-Brocks syndrome is diagnosed clinically based on the presence of the following:[1]
  • Imperforate anus
  • Abnormally shaped ears
  • Typical thumb malformations (preaxial polydactyly, triphalangeal thumbs which have three bones in them, much like the fingers, instead of the normal two, hypoplastic or underdeveloped thumbs) without shortening of the radius (the larger of the two bones in the forearm)

SALL1 is the only gene known to be associated with Townes-Brocks syndrome. Detection of a SALL1 mutation confirms the diagnosis. Genetic testing is available on a clinical basis.[1]

Last updated: 3/25/2015

References
  1. Kohlhase J. Townes-Brocks Syndrome. GeneReveiws. May 3, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1445/. Accessed 3/25/2015.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • Anus, imperforate, with hand, foot and ear anomalies
  • Deafness, sensorineural, with imperforate anus and hypoplastic thumbs
  • Imperforate anus with hand, foot and ear anomalies
  • Rare genetic disease
  • REAR syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.