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Definition

A form of Townes-Brocks syndrome, a rare autosomal dominant disease characterized by the triad of imperforate anus, dysplastic ears, and thumb malformations. Minor features of the condition include hearing loss, foot malformations, renal impairment with or without renal malformations, genitourinary malformations, and congenital heart disease.

Acronym

TBS1

Synonyms

Anus, imperforate, with hand, foot, and ear anomalies
Deafness, sensorineural, with imperforate anus and thumb anomalies
Rear syndrome
Renal-ear-anal-radial syndrome
Townes-Brocks branchiootorenal-like syndrome

Keywords

Deafness