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Townes-Brocks 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.

External ear malformation

A malformation of the auricle of the ear.

Total: 1

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PMID (PMCID)
27073431 (4812390)	OTHER
	Delayed diagnosis of Townes-Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report.
	Lin FJ, Lu W, Gale D, Yao Y, Zou R, Bian F, Jiang GR. Exp Ther Med. 2016;11(4):1249-1252.
	Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital anomaly syndrome characterized by the triad of anorectal, hand and external ear malformations.