Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

Newline Maker

Is there treatment for Townes-Brocks syndrome?

Treatment is directed towards the specific symptoms, including immediate surgical intervention for imperforate anus; surgery for severe malformations of the hands; routine management of congenital heart defects; hemodialysis and possibly kidney transplantation for end-stage renal disease (ESRD); and early treatment of hearing loss. In addition, regular monitoring of renal function in individuals with and without renal anomalies is suggested.[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.


GARD Video Tutorial

  • Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.

    Finding Treatment Information

Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.

Clinical Trials & Research for this Disease

  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".
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.