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Townes-Brocks syndrome

Disease definition

Townes-Brocks syndrome (TBS) is 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.

ORPHA:857

  • Synonym(s):
    • Imperforate anus with hand, foot and ear anomalies
    • REAR syndrome
    • Renal-ear-anal-radial syndrome
    • Sensorineural deafness 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
  • UMLS: C0265246
  • MeSH: C536974
  • GARD: 7784
  • MedDRA: -

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