Townes–Brocks syndrome

Also known as: Renal-ear-anal-radial syndrome

Anal, ear, thumb and renal malformations.

Medical specialty: Nephrology
Subspecialty: Nephrology / Congenital anomalies of kidney and urinary tract
Sex & age distribution: Male: affected; Female: affected equally; Children: yes
Gene(s) involved: SALL1, SALL4

Etiology & mechanism

SALL1 variants.

Gene(s) involved (2)

SALL1SALL4

Symptoms & signs (5)

dysplastic earshearing lossimperforate anusrenal hypoplasiatriphalangeal thumbs

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.