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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

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.