Townes-Brocks syndrome

*Gene map locus 16q12.1

Anus-hand-ear syndrome

Deafness, sensorineural, with imperforate anus and thumb anomalies

Deafness-imperforate anus-hypoplastic thumbs syndrome

Imperforate anus with hand, foot, and ear anomalies

REAR syndrome

Renal-ear-anal-radial syndrome

TBS

[Clinical features: external ear anomalies; hearing loss; preaxial polydactyly; triphalangeal thumbs; imperforate anus; renal malformations]

[Inheritance: autosomal dominant]


Townes-Brocks syndrome	Townes-Brocks syndrome	Townes-Brocks Syndrome with Hypothyroidism
Indian Pediatrics	Indian Pediatrics	Indian Pediatrics


High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case	Townes-Brocks syndrome	Townes-Brocks syndrome
Journal of Medical Genetics	Journal of Medical Genetics	Journal of Medical Genetics


TBS proband demonstrating cup ears and hypoplastic thumbs (also had anteriorly placed anus and renal anomaly)	TBS proband with mild auricular anomaly and hypoplastic thumbs (also had imperforate anus)
Pediatrics	Pediatrics

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Edited by Aldo Campana, August 21, 2012