VACTERL Association

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report VACTERL Association is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

VACTERL association is a nonrandom association of birth defects that affects multiple median and para-median structures. The term VACTERL is an acronym with each letter representing the first letter of one of the more common findings seen in affected children:

* (V) = (costo-) vertebral abnormalities
* (A) = anal atresia
* (C) = cardiac (heart) defects
* (TE) = tracheal-esophageal abnormalities, including atresia, stenosis and fistula
* (R) = renal (kidney) and radial abnormalities
* (L) = (non-radial) limb abnormalities
* (S) = single umbilical artery

Variability of such associations is wide and the relevance of each component usually varies by the observers. For this reason, from an original nucleus of "VATER" anomalies, the subsequent observation of an increased rate of heart malformations (C), non-radial limb anomalies (L) and single umbilical artery (S) expanded the phenotypic continuum grouping together all these conditions (i.e. VATER, VACTER, VACTERL and VACTERLS associations). At the moment, VACTERL association is the most frequently used term to define this condition. In addition, to the above mentioned features, affected children may also exhibit pre- and/or post-natal growth deficiency with failure to gain weight and grow at the expected rate (failure to thrive). Further low-frequency findings include facial asymmetry (hemifacialmicrosomia), external ear malformations, lung lobation defects, intestinal malrotation and genital anomalies. VATER/VACTERL features are more common in twinning. In some cases, the acronym VATER association is used. Mental functioning and intelligence is usually unaffected; developmental delay/mental retardation should suggest an alternative diagnosis. The cause of VACTERL association remains unknown in most cases and is likely heterogeneous. VACTERL association often occurs in a single individual in any given family (sporadic case).

Supporting Organizations

Birth Defect Research for Children, Inc.

976 Lake Baldwin Lane
Orlando, FL 32814
USA
Tel: (407)895-0802
Email: staff@birthdefects.org
Website: http://www.birthdefects.org

Cleft Lip and Palate Foundation of Smiles

2044 Michael Ave SW
Wyoming, MI 49509
Tel: (616)329-1335
Email: Rachelmancuso09@comcast.net
Website: http://www.cleftsmile.org

EA/TEF Child and Family Support Connection, Inc.

111 West Jackson Boulevard
Suite 1145
Chicago, IL 60604-3502
USA
Tel: (312)987-9085
Fax: (312)987-9086
Email: info@eatef.org
Website: http://www.eatef.org

Fetal Hope Foundation

9786 South Holland Street
Littleton, CO 80127
USA
Tel: (303)932-0553
Tel: (877)789-4673
Email: info@fetalhope.org
Website: http://www.fetalhope.org

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

March of Dimes

1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Email: AskUs@marchofdimes.org or preguntas@nacersano.org
Website: http://www.marchofdimes.org and nacersano.org

Oley Foundation

43 New Scotland Ave., MC-28
Albany Medical Center
Albany, NY 12208-3478
USA
Tel: (518)262-5079
Fax: (518)262-5528
Tel: (800)776-6539
Email: dahlr@mail.amc.edu
Website: http://www.oley.org

Pull-Thru Network

1705 Wintergreen Parkway
Normal, IL 61761
USA
Tel: (309)262-2930
Email: PullthruNetwork@gmail.com
Website: http://www.PullthruNetwork.org

Tracheo Oesophageal Fistula Support

St. George's Centre
91 Victory Road
Nottingham, NG4 2NN
United Kingdom
Tel: 4401159613092
Fax: 4401159613097
Email: info@tofs.org.uk
Website: http://www.tofs.org.uk

VATER Connection Support

Email: angie@vaterconnection.org
Website: http://www.thevaterconnection.com/index.asp

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated:  5/26/2015
Copyright  2015 National Organization for Rare Disorders, Inc.