Nephrology · Nephrology / Congenital anomalies of kidney and urinary tract
Townes–Brocks syndrome
also: Renal-ear-anal-radial syndrome
Anal, ear, thumb and renal malformations.
- 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
- Alternative names & eponyms
- Renal-ear-anal-radial syndrome
Etiology & mechanism
SALL1 variants.
Gene(s) involved (2)
Symptoms & signs (5)
In plain terms, someone with Townes–Brocks syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
1 shared
Alport syndrome with diffuse leiomyomatosis
hearing loss
1 shared
Alström syndrome
hearing loss
1 shared
Branchio-oto-renal syndrome
hearing loss
1 shared
Chanarin–Dorfman syndrome
hearing loss
1 shared
CHARGE syndrome
hearing loss
1 shared
Cloacal exstrophy OEIS syndrome
imperforate anus
1 shared
Cockayne syndrome
hearing loss
1 shared
Cogan syndrome
hearing loss
1 shared
Cogan syndrome with neurological involvement
hearing loss
1 shared
Cornelia de Lange syndrome
hearing loss
Loading…
Loading…