Townes-Brocks syndrome

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Townes-Brocks syndrome

Synonyms: 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

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Townes-Brocks syndrome?

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