Townes-Brocks syndrome

MONDO:0007142Mondo

Findings

No curated finding names Townes-Brocks syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

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.

Definition from the Mondo Disease Ontology (MONDO:0007142), read 2026-09-29. CC BY 4.0.

Features

66 features

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Abnormal pinna morphologyHPOHP:0000377
- Very frequent (80% to 99% of cases)
Anal atresiaHPOHP:0002023
- Very frequent (80% to 99% of cases)
Preauricular skin tagHPOHP:0000384
- Very frequent (80% to 99% of cases)
Preaxial hand polydactylyHPOHP:0001177
- Very frequent (80% to 99% of cases)
Rectoperineal fistulaHPOHP:0004792
- Very frequent (80% to 99% of cases)
Rectovaginal fistulaHPOHP:0000143
- Very frequent (80% to 99% of cases)
Triphalangeal thumbHPOHP:0001199
- Very frequent (80% to 99% of cases)
Abnormal foot morphologyHPOHP:0001760
- Frequent (30% to 79% of cases)
Anteriorly placed anusHPOHP:0001545
- Frequent (30% to 79% of cases)
Clinodactyly of the 5th fingerHPOHP:0004209
- Frequent (30% to 79% of cases)
ConstipationHPOHP:0002019
- Frequent (30% to 79% of cases)
CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)

Show the remaining 54

Hearing impairmentHPOHP:0000365
- Frequent (30% to 79% of cases)
MicrotiaHPOHP:0008551
- Frequent (30% to 79% of cases)
Overfolded helixHPOHP:0000396
- Frequent (30% to 79% of cases)
Pes planusHPOHP:0001763
- Frequent (30% to 79% of cases)
Renal insufficiencyHPOHP:0000083
- Frequent (30% to 79% of cases)
Subcutaneous noduleHPOHP:0001482
- Frequent (30% to 79% of cases)

Genes

2 genes

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

DACT1HGNC:17748
- Supportive · Orphanet · Autosomal dominant · 2021
SALL1HGNC:10524
- Supportive · Orphanet · Autosomal dominant · 2021

Where it sits

A kind of: autosomal dominant disease
congenital limb malformation
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
syndromic disease
Narrower terms (2): Townes-Brocks syndrome 1
Townes-Brocks syndrome 2

Other names

6 names

Resolves to: Townes-Brocks syndrome

Also called: imperforate anus with hand, foot and ear anomaliesrear syndromerenal-ear-anal-radial syndromesensorineural deafness with imperforate anus and hypoplastic thumbsTBSTownes syndrome