Delayed diagnosis of Townes-Brocks syndrome accompanied with kidney failure.

ABSTRACT: Townes-Brocks syndrome (TBS) is a rare autosomal dominant disorder typically characterized by the triad of anorectal malformations, external ear anomalies and hand malformations such as preaxial polydactyly, caused by mutations in the SALL1 gene. Kidney involvement, although less common, can progress to end-stage kidney failure. Early recognition of the characteristic features, particularly those related to SALL1, is crucial for accurate diagnosis, management, and genetic counseling. Here, we present a Turkish family with TBS in which the diagnosis was delayed due to the absence of the classic triad. The proband exhibited significant developmental delay, kidney failure and a congenital foot abnormality, while other family members showed milder manifestations. A multigene panel revealed a h

SUBMITTER: Urkmez MF 

PROVIDER: S-EPMC12779858 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature