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.
|Townes-Brocks branchiootorenal-like syndrome|
|Townes-Brocks syndrome 1|
|Townes-Brocks syndrome 2|
Webb BD et al. (2017) Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome.[^]
OMIM.ORG articleOmim 617466 [^]