Townes-Brocks syndrome
Townes-Brocks 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.
Also known as 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, Townes-Brocks syndrome — per MONDO