Orphanet: Townes Brocks syndrome

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Orphanet doesn't provide personalised answers. To get in touch with the Orphanet team, please contact

Information provided in your contribution (including your email address) will be stocked in .CSV files that will be sent as an email to Orphanet's teams. These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases (for more information see our section General Data Protection Regulation and data privacy (GDPR) and Confidentiality).

Captcha image

Townes-Brocks syndrome

Disease definition

A rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.


Classification level: Disorder
  • Synonym(s):
    • Imperforate anus-hand, foot and ear anomalies syndrome
    • REAR syndrome
    • Renal-ear-anal-radial syndrome
    • Sensorineural deafness with imperforate anus and hypoplastic thumbs
    • Sensorineural hearing loss with imperforate anus and hypoplastic thumbs
    • TBS
    • Townes syndrome
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: Q87.8
  • OMIM: 107480  617466
  • UMLS: C0265246
  • MeSH: C536974
  • GARD: 7784
  • MedDRA: -

Detailed information

General public

Disease review articles

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.