VACTERL association

Common Name(s)

VACTERL association

VACTERL association is a non-random association of birth defects that affects multiple parts of the body. The term VACTERL is an acronym with each letter representing the first letter of one of the more common findings seen in affected individuals: (V) = vertebral abnormalities; (A) = anal atresia; (C) = cardiac (heart) defects; (T) = tracheal anomalies including tracheoesophageal (TE) fistula; (E) = esophageal atresia; (R) = renal (kidney) and radial (thumb side of hand) abnormalities; and (L) = other limb abnormalities. Other features may include (less frequently) growth deficiencies and failure to thrive; facial asymmetry (hemifacial microsomia); external ear malformations; intestinal malrotation; and genital anomalies. Intelligence is usually normal. The exact cause of VACTERL association is unknown; most cases occur randomly, for no apparent reason.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "VACTERL association" for support, advocacy or research.

Pull-thru Network, Inc.

The Pull-thru Network is a volunteer-based organization dedicated to providing education, information, support and advocacy for those individuals, and the families of those individuals, who are affected by any congenital anorectal, colorectal or urogenital disorder and any of the variety of related diagnoses.

http://www.PullthruNetwork.org

Last Updated: 8 Nov 2012

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "VACTERL association" for support, advocacy or research.

Pull-thru Network, Inc.

The Pull-thru Network is a volunteer-based organization dedicated to providing education, information, support and advocacy for those individuals, and the families of those individuals, who are affected by any congenital anorectal, colorectal or urogenital disorder and any of the variety of related diagnoses.

http://www.PullthruNetwork.org

Last Updated: 8 Nov 2012

View Details

 

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 "VACTERL association" returned 14 free, full-text research articles on human participants. First 3 results:

Unusual variant of scimitar syndrome associated with an absent right pulmonary artery, stenosis of the inferior vena cava, hemi-azygous continuation and the VACTERL association.
 

Author(s): Farirai F Takawira, Fareed Omar

Journal:

 

We report on a two-month-old infant with an unusual form of scimitar syndrome, associated with an absent right pulmonary artery, obstructed inferior vena cava, hemi-azygous continuation and the VACTERL association. The infant posed a major management problem and eventually died from ...

Last Updated: 3 Jun 2013

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Sporadic VACTERL association in a Japanese family with Sjögren-Larsson syndrome.
 

Author(s): Takuya Takeichi, Kazumitsu Sugiura, Hidee Arai, Ken Ishii, Michihiro Kono, Masashi Akiyama

Journal: Acta Derm. Venereol.. 2013 Sep;93(5):579-80.

 

Last Updated: 4 Sep 2013

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Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL association.
 

Author(s): Nneamaka B Agochukwu, Daniel E Pineda-Alvarez, Amelia A Keaton, Nicole Warren-Mora, Manu S Raam, Aparna Kamat, Settara C Chandrasekharappa, Benjamin D Solomon

Journal: Eur J Med Genet. ;54(3):323-8.

 

VACTERL association, a relatively common condition with an incidence of approximately 1 in 20,000 -35,000 births, is a non-random association of birth defects that includes vertebral defects (V), anal atresia (A), cardiac defects (C), tracheo-esophageal fistula (TE), renal anomalies ...

Last Updated: 3 May 2011

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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 "VACTERL association" returned 4 free, full-text review articles on human participants. First 3 results:

Clinical geneticists' views of VACTERL/VATER association.
 

Author(s): Benjamin D Solomon, Kelly A Bear, Virginia Kimonis, Annelies de Klein, Daryl A Scott, Charles Shaw-Smith, Dick Tibboel, Heiko Reutter, Philip F Giampietro

Journal: Am. J. Med. Genet. A. 2012 Dec;158A(12):3087-100.

 

VACTERL association (sometimes termed "VATER association" depending on which component features are included) is typically defined by the presence of at least three of the following congenital malformations, which tend to statistically co-occur in affected individuals: Vertebral anomalies, ...

Last Updated: 23 Nov 2012

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VACTERL/VATER Association.
 

Author(s): Benjamin D Solomon

Journal:

 

VACTERL/VATER association is typically defined by the presence of at least three of the following congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. In addition to these core component features, ...

Last Updated: 9 Sep 2011

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Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature.
 

Author(s): Charles Shaw-Smith

Journal: Eur J Med Genet. ;53(1):6-13.

 

Esophageal atresia with/without tracheo-esophageal fistula is a relatively common malformation, occurring in around 1 in 3500 births. In around half of cases, additional malformations are present, forming either a syndrome of known genetic aetiology, or a recognised association, of ...

Last Updated: 4 Feb 2010

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical and Genetic Studies of VACTERL Association
 

Status: Recruiting

Condition Summary: Congenital Abnormalities; Birth Defects; Congenital Defects

 

Last Updated: 21 Mar 2014

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