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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
  • REAR syndrome
  • Renal-ear-anal-radial syndrome
  • TBS
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Overview


Townes-Brocks syndrome (TBS), or Renal-Ear-Anal-Radial (REAR) syndrome, is a multiple malformation syndrome. Characteristics are present at birth and vary from person to person. The most common characteristics include an absence of the anal opening (imperforate anus) and anomalies of the ears, hands, and feet. Hearing loss, malformations of the genital-renal system, craniofacial malformations, and mental retardation may also be present. This condition is extremely rare. Males and females are affected in equal numbers. [1]
Last updated: 9/5/2008

References

  1. Lachiewicz AM and Hodge C. Townes-Brocks syndrome. NORD Guide to Rare Disorders. Philadelphia, PA: Lippincott Williams & Wilkins; 2003;
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Basic Information

  • Genetics Home Reference (GHR) contains information on Townes-Brocks syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Townes-Brocks syndrome. Click on the link to view a sample search on this topic.