Townes-Brocks syndrome

Common Name(s)

Townes-Brocks syndrome

Townes-Brocks syndrome (TBS), or Renal-Ear-Anal-Radial (REAR) syndrome, is a multiple malformation syndrome. Characteristics are present at birth and vary from person to person. The most common characteristics include an absence of the anal opening (imperforate anus) and anomalies of the ears, hands, and feet. Hearing loss, malformations of the genital-renal system, craniofacial malformations, and mental retardation may also be present. This condition is extremely rare. Males and females are affected in equal numbers. 
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Townes-Brocks syndrome" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Townes-Brocks syndrome" returned 9 free, full-text research articles on human participants. First 3 results:

Nephropathy in Townes-Brocks syndrome (SALL1 mutation): imaging and pathological findings in adulthood.
 

Author(s): Stanislas Faguer, Adèle Pillet, Nicolas Chassaing, Marion Merhenberger, Pauline Bernadet-Monrozies, Joëlle Guitard, Dominique Chauveau

Journal: Nephrol. Dial. Transplant.. 2009 Apr;24(4):1341-5.

 

Townes-Brocks syndrome (TBS) is a rare autosomal dominant disease, resulting from mutation in the developmental gene SALL1. The phenotype encompasses malformations of limbs (triphalangeal thumbs and pre-axial polydactyly), intestine (anal stenosis) and ears (dysplastic ear with perception ...

Last Updated: 23 Mar 2009

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Townes-Brocks syndrome with hypothyroidism.
 

Author(s): Vivek Goswami, N K Dubey

Journal: Indian Pediatr. 2007 Feb;44(2):140-2.

 

Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, limb deformity, imperforate anus, and renal malformations. Hypothyroidism is not a recognized feature of ...

Last Updated: 12 Mar 2007

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Townes-Brocks syndrome.
 

Author(s): Priya, A K Malhotra

Journal: Indian Pediatr. 2004 Jul;41(7):743.

 

Last Updated: 6 Aug 2004

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Townes-Brocks syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Townes-Brocks syndrome.
 

Author(s): C M Powell, R C Michaelis

Journal: J. Med. Genet.. 1999 Feb;36(2):89-93.

 

Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, preaxial polydactyly and triphalangeal thumbs, imperforate anus, and renal malformations. Most patients ...

Last Updated: 12 May 1999

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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