Other Names for this Disease
- Renal-ear-anal-radial syndrome
- REAR syndrome
- Anus, imperforate, with hand, foot and ear anomalies
- Deafness, sensorineural, with imperforate anus and hypoplastic thumbs
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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.
Last updated: 3/25/2015
- Kohlhase J. Townes-Brocks Syndrome. GeneReveiws. May 3, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1445/. Accessed 3/25/2015.
- Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.
- 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.
- 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".