VATER association

Common Name(s)

VATER association

VATER is a mnemonically useful acronym for the nonrandom association of vertebral defects (V), anal atresia (A), tracheoesophageal fistula with esophageal atresia (TE), and radial or renal dysplasia (R). This combination of associated defects was pointed out by {14:Quan and Smith (1972)}. Nearly all cases have been sporadic. VACTERL is an acronym for an expanded definition of the association that includes cardiac malformations (C) and limb anomalies (L). The VACTERL association is a spectrum of various combinations of its 6 components, which can be a manifestation of several recognized disorders rather than a distinct anatomic or etiologic entity ({10:Khoury et al., 1983}). Also see VATER/VACTERL association with hydrocephalus (VACTERL-H; {276950}) and VACTERL with or without hydrocephalus (VACTERLX; {314390}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

Kids with Heart National Association for Children's Heart Disorders

Our organization was formed in 1985 with the main mission of providing support, information, resources, and education for the families of the children living with congenital heart defects and to promote public awareness of the issues that these families live with on a day to day basis.

Last Updated: 30 Oct 2012

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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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TEF VATER International Support Network

If you are a mother, father, friend, aunt, uncle, grandfather, grandmother or anyone searching for information on babies, specifically your baby or a baby you know, born with VATER, esophageal atresia and/or traceoesophageal fistula, this site was created for YOU!

Last Updated: 24 Nov 2009

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Kids with Heart National Association for Children's Heart Disorders

Our organization was formed in 1985 with the main mission of providing support, information, resources, and education for the families of the children living with congenital heart defects and to promote public awareness of the issues that these families live with on a day to day basis.

http://www.kidswithheart.org

Last Updated: 30 Oct 2012

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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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TEF VATER International Support Network

If you are a mother, father, friend, aunt, uncle, grandfather, grandmother or anyone searching for information on babies, specifically your baby or a baby you know, born with VATER, esophageal atresia and/or traceoesophageal fistula, this site was created for YOU!

http://www.tefvater.org

Last Updated: 24 Nov 2009

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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 "VATER association" returned 5 free, full-text research articles on human participants. First 3 results:

Inheritance of the VATER/VACTERL association.
 

Author(s): Enrika Bartels, Ekkehart Jenetzky, Benjamin D Solomon, Michael Ludwig, Eberhard Schmiedeke, Sabine Grasshoff-Derr, Dominik Schmidt, Stefanie Märzheuser, Stuart Hosie, Sandra Weih, Stefan Holland-Cunz, Markus Palta, Johannes Leonhardt, Mattias Schäfer, Christina Kujath, Anke Rissmann, Markus M Nöthen, Heiko Reutter, Nadine Zwink

Journal: Pediatr. Surg. Int.. 2012 Jul;28(7):681-5.

 

VATER/VACTERL association refers to the non-random co-occurrence of the following component features: vertebral defects, anal atresia, cardiac malformations, tracheoesophageal atresia, renal abnormalities, and limb defects. Recently, Solomon et al. (Hum Genet 127:731-733, 2010) observed ...

Last Updated: 18 Jun 2012

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KL-6 mucin expression in carcinoma of the ampulla of Vater: association with cancer progression.
 

Author(s): Wei Tang, Yoshinori Inagaki, Norihiko Kokudo, Qian Guo, Yasuji Seyama, Munehiro Nakata, Hiroshi Imamura, Keiji Sano, Yasuhiko Sugawara, Masatoshi Makuuchi

Journal: World J. Gastroenterol.. 2005 Sep;11(35):5450-4.

 

To assess histochemical expression of KL-6 and its clinicopathological significance in carcinoma of the ampulla of Vater.

Last Updated: 13 Oct 2005

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A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association.
 

Author(s): W Reardon, X P Zhou, C Eng

Journal: J. Med. Genet.. 2001 Dec;38(12):820-3.

 

Mutations of the PTEN gene are associated with hamartoma-neoplasia syndromes. While germline mutations at this chromosome 10q22-23 locus have been observed in patients with Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR), both of which phenotypes are associated with ...

Last Updated: 18 Dec 2001

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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 "VATER 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: 21 Mar 2014

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