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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 24 free, full-text research articles on human participants. First 3 results:

Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association.
 

Author(s): Alina C Hilger, Jan Halbritter, Tracie Pennimpede, Amelie van der Ven, Georgia Sarma, Daniela A Braun, Jonathan D Porath, Stefan Kohl, Daw-Yang Hwang, Gabriel C Dworschak, Bernhard G Hermann, Anna Pavlova, Osman El-Maarri, Markus M Nöthen, Michael Ludwig, Heiko Reutter, Friedhelm Hildebrandt

Journal: Hum. Mutat.. 2015 Dec;36(12):1150-4.

 

The VATER/VACTERL association describes the combination of congenital anomalies including vertebral defects, anorectal malformations, cardiac defects, tracheoesophageal fistula with or without esophageal atresia, renal malformations, and limb defects. As mutations in ciliary genes ...

Last Updated: 11 Nov 2015

Go To URL
PCSK5 mutation in a patient with the VACTERL association.
 

Author(s): Yukio Nakamura, Shingo Kikugawa, Shoji Seki, Masahiko Takahata, Norimasa Iwasaki, Hidetomi Terai, Mitsuhiro Matsubara, Fumio Fujioka, Hidehito Inagaki, Tatsuya Kobayashi, Tomoatsu Kimura, Hiroki Kurahashi, Hiroyuki Kato

Journal:

 

The VACTERL association is a typically sporadic, non-random collection of congenital anomalies that includes vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula with esophageal atresia, renal anomalies, and limb abnormalities. Although several chromosomal aberrations ...

Last Updated: 9 Jun 2015

Go To URL
Analysis of renal anomalies in VACTERL association.
 

Author(s): Bridget K Cunningham, Alina Khromykh, Ariel F Martinez, Tyler Carney, Donald W Hadley, Benjamin D Solomon

Journal: Birth Defects Res. Part A Clin. Mol. Teratol.. 2014 Oct;100(10):801-5.

 

VACTERL association refers to a combination of congenital anomalies that can include: vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula with esophageal atresia, renal anomalies (typically structural renal anomalies), and limb anomalies.

Last Updated: 27 Oct 2014

Go To URL

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 7 free, full-text review articles on human participants. First 3 results:

VACTERL association with hydrocephalus in a fetus conceived by in vitro fertilization and embryo transfer.
 

Author(s): Chih-Ping Chen, Tung-Yao Chang, Yi-Yung Chen, Schu-Rern Chern, Jun-Wei Su, Wayseen Wang

Journal: Taiwan J Obstet Gynecol. 2013 Dec;52(4):575-9.

 

We present a case of VACTERL association with hydrocephalus (VACTERL-H) in a fetus conceived by in vitro fertilization (IVF) and embryo transfer (ET) and review the literature.

Last Updated: 13 Jan 2014

Go To URL
An approach to the identification of anomalies and etiologies in neonates with identified or suspected VACTERL (vertebral defects, anal atresia, tracheo-esophageal fistula with esophageal atresia, cardiac anomalies, renal anomalies, and limb anomalies) association.
 

Author(s): Benjamin D Solomon, Linda A Baker, Kelly A Bear, Bridget K Cunningham, Philip F Giampietro, Colleen Hadigan, Donald W Hadley, Steven Harrison, Marc A Levitt, Nickie Niforatos, Scott M Paul, Cathleen Raggio, Heiko Reutter, Nicole Warren-Mora

Journal: J. Pediatr.. 2014 Mar;164(3):451-7.e1.

 

Last Updated: 24 Feb 2014

Go To URL
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

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.