Townes-Brocks syndrome
Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0002254
syndromic disease
is_a
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
MONDO:0019054
congenital limb malformation
is_a
TBS
exact
TBS1
related
Townes syndrome
exact
Townes-Brocks syndrome
exact
anus, imperforate, with hand, foot and ear anomalies
related
deafness, sensorineural, with imperforate anus and hypoplastic thumbs
related
imperforate anus with hand, foot and ear anomalies
exact
rear syndrome
exact
renal-ear-anal-radial syndrome
exact
sensorineural deafness with imperforate anus and hypoplastic thumbs
exact