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What is Townes-Brocks Syndrome?

What is Townes-Brocks Syndrome?

  • Townes-Brocks Syndrome: A rare condition characterized by anal, hand, foot and ear abnormalities.
  • Townes-Brocks Syndrome: A syndrome in which 2 or more of the following abnormalities occur in most patients: Anorectal malformations (imperforate, stenotic, or anteriorly situated anus), hand deformities (polydactyly, broad, bifid, or triphalangeal thumbs), and external ear abnormalities (microtia, "satyr" or "lop" ear, and preuricular tags or pits), and sensorineural deafness. Intellectual deficit related to hearing disorders or occurring independently may be associated. Urinary tract abnormalities are present in some patients.
    Source - Diseases Database

Townes-Brocks Syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Townes-Brocks Syndrome, or a subtype of Townes-Brocks Syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Townes-Brocks Syndrome as a "rare disease".
Source - Orphanet

Townes-Brocks Syndrome: Introduction

Types of Townes-Brocks Syndrome:

Broader types of Townes-Brocks Syndrome:

How serious is Townes-Brocks Syndrome?

Complications of Townes-Brocks Syndrome: see complications of Townes-Brocks Syndrome

What causes Townes-Brocks Syndrome?

Causes of Townes-Brocks Syndrome: see causes of Townes-Brocks Syndrome

What are the symptoms of Townes-Brocks Syndrome?

Symptoms of Townes-Brocks Syndrome: see symptoms of Townes-Brocks Syndrome

Complications of Townes-Brocks Syndrome: see complications of Townes-Brocks Syndrome

Onset of Townes-Brocks Syndrome: birth

Townes-Brocks Syndrome: Testing

Diagnostic testing: see tests for Townes-Brocks Syndrome.

Misdiagnosis: see misdiagnosis and Townes-Brocks Syndrome.

How is it treated?

Doctors and Medical Specialists for Townes-Brocks Syndrome: Medical Geneticist ; see also doctors and medical specialists for Townes-Brocks Syndrome.
Treatments for Townes-Brocks Syndrome: see treatments for Townes-Brocks Syndrome
Research for Townes-Brocks Syndrome: see research for Townes-Brocks Syndrome

Name and Aliases of Townes-Brocks Syndrome

Main name of condition: Townes-Brocks Syndrome

Other names or spellings for Townes-Brocks Syndrome:

anus imperforate-hand, foot, ear anomalies, deafness sensorineural, imperforate anus, hypoplastic thumbs, TBS, Renal-ear-anal-radial syndrome, REAR syndrome, Anus, imperforate, with hand, foot and ear anomalies, Deafness, sensorineural, with imperforate anus and hypoplastic thumbs

Anus-hand-ear syndrome, REAR syndrome Source - Diseases Database

Anus, imperforate, with hand, foot and ear anomalies, Deafness, sensorineural, with imperforate anus and hypoplastic thumbs, Rear syndrome, Renal-ear-anal-radial syndrome, TBS
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Townes-Brocks Syndrome: Related Conditions

Research the causes of these diseases that are similar to, or related to, Townes-Brocks Syndrome:

 

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