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

Renal dysplasia characterized by prominent cartilaginous metaplasia lesions in VACTERL association: A case report.
 

Author(s): Takeo Nakaya, Taiju Hyuga, Yukichi Tanaka, Shina Kawai, Hideo Nakai, Toshiro Niki, Akira Tanaka

Journal: Medicine (Baltimore). 2017 Apr;96(15):e6499.

 

Renal dysplasia is the most important cause of end-stage renal disease in children. The histopathological characteristic of dysplasia is primitive tubules with fibromuscular disorganization. Renal dysplasia often includes metaplastic cartilage. Metaplastic cartilage in renal dysplasia ...

Last Updated: 13 Apr 2017

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[Possible Relation Between Antenatal Venlafaxine Use and VACTERL Association in a Newborn: A Case Report].
 

Author(s): Muammer Özgür Çevik, Mustafa Çelik, İbrahim Hakan Bucak, Behice Han Almış, Mehmet Turğut

Journal: Turk Psikiyatri Derg. 2017 ;28(1):67-70.

 

Major depressive disorder is common during antenatal period and many women are prescribed antidepressant drugs despite no antidepressant can be regarded as definitely safe in pregnancy. Previous studies have suggested links between gestational use of selective serotonin reuptake inhibitors ...

Last Updated: 14 Mar 2017

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VACTERL Association with Sacrococcygeal Teratoma.
 

Author(s): Rahul Gupta, Vinita Chaturvedi

Journal: Indian Pediatr. 2016 Aug;53(8):746-7.

 

Last Updated: 29 Aug 2016

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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 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

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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

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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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Symptoms, Diagnosis, and Treatment

This information is provided by Genetics Home Reference.

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.