Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Townes-Brocks syndrome 2

Townes-Brocks syndrome 2 is an autosomal dominant malformation syndrome which is caused by mutations of the DACT1 gene. The cardinal symptoms include imperforate anus, dysplastic ears, and thumb malformations. Occasionally seen are hearing loss, foot malformations, renal impairment, genitourinary malformations, and congenital heart disease.

Systematic

Townes-Brocks syndrome
SALL1
Townes-Brocks branchiootorenal-like syndrome
Townes-Brocks syndrome 1
Townes-Brocks syndrome 2
DACT1

References:

1.

Webb BD et. al. (2017) Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome.

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Update: Sept. 26, 2018