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.

Renal insufficiency

A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.

Total: 1

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PMID (PMCID)
25336016	MALE
	16q12 microdeletion syndrome in two Japanese boys.
	Morisada N, Sekine T, Ishimori S, Tsuda M, Adachi M, Nozu K, Nakanishi K, Tanaka R, Iijima K. Pediatr Int. 2014;56(5):e75-8.
	Patient 2 was a 13-year-old Japanese boy diagnosed with Townes-Brocks syndrome and severe developmental delay, epilepsy, and renal insufficiency requiring renal replacement therapy.