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.

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

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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 "VACTERL association" returned 17 free, full-text research articles on human participants. First 3 results:

Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association.
 

Author(s): Johanna Winberg, Peter Gustavsson, Nikos Papadogiannakis, Ellika Sahlin, Frideborg Bradley, Edvard Nordenskjöld, Pär-Johan Svensson, Göran Annerén, Erik Iwarsson, Ann Nordgren, Agneta Nordenskjöld

Journal:

 

In order to identify genetic causes of VACTERL association (V vertebral defects, A anorectal malformations, C cardiac defects, T tracheoesofageal fistula, E esophageal atresia, R renal anomalies, L limb deformities), we have collected DNA samples from 20 patients diagnosed with VACTERL ...

Last Updated: 13 Jan 2014

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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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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 5 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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VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis.
 

Author(s): Enrika Bartels, Anna C Schulz, Nicole W Mora, Daniel E Pineda-Alvarez, Charlotte H W Wijers, Carlo M Marcelis, Rüdiger Stressig, Jochen Ritgen, Eberhard Schmiedeke, Manuel Mattheisen, Markus Draaken, Per Hoffmann, Alina C Hilger, Gabriel C Dworschak, Friederike Baudisch, Michael Ludwig, Soyhan Bagci, Andreas Müller, Ulrich Gembruch, Annegret Geipel, Christoph Berg, Peter Bartmann, Markus M Nöthen, Iris A L M van Rooij, Benjamin D Solomon, Heiko M Reutter

Journal: Clin. Dysmorphol.. 2012 Oct;21(4):191-5.

 

The VATER/VACTERL association is typically defined by the presence of at least three of the following congenital malformations: vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. The identification of 14 twin ...

Last Updated: 30 Aug 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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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: 11 Nov 2014

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