/Townes-Brocks syndrome

Townes-Brocks syndrome

Rare Disease

MONDO:0007142

Also Known As

TBSTownes syndromeTownes-Brocks syndromeimperforate anus with hand, foot and ear anomaliesrear syndromerenal-ear-anal-radial syndromesensorineural deafness with imperforate anus and hypoplastic thumbsTBS1Townes-Brocks syndrome 1Townes-Brocks-branchiootorenal-like syndromeanus, imperforate, with hand, foot and ear anomaliesanus, imperforate, with hand, foot, and Ear anomaliesdeafness, sensorineural, with imperforate anus and hypoplastic thumbsdeafness, sensorineural, with imperforate anus and thumb anomaliesrenal-Ear-anal-radial syndrome

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.