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    VACTERL Association

    Important
    It is possible that the main title of the report VACTERL Association is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

    Synonyms

    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 (hemifacial microsomia), 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 exact cause of VACTERL association is unknown. Most cases occur randomly, for no apparent reason (sporadic).

    Resources

    March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains, NY 10605
    Tel: (914)997-4488
    Fax: (914)997-4763
    Tel: (888)663-4637
    Email: Askus@marchofdimes.com
    Internet: http://www.marchofdimes.com

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

    Oley Foundation
    214 Hun Memorial 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
    Internet: http://www.oley.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
    Internet: http://www.eatef.org

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

    VATER Connection Support
    Email: angie@vaterconnection.org
    Internet: http://www.thevaterconnection.com/index.asp

    Birth Defect Research for Children, Inc.
    976 Lake Baldwin Lane
    Orlando, FL 32814
    USA
    Tel: (407)895-0802
    Email: staff@birthdefects.org
    Internet: http://www.birthdefects.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
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

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

    Cleft Lip and Palate Foundation of Smiles
    2044 Michael Ave SW
    Wyoming, MI 49509
    Tel: (616)329-1335
    Email: Rachelmancuso09@comcast.net
    Internet: http://www.cleftsmile.org

    For a Complete Report:

    This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, 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. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

    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.

    For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

    Last Updated: 3/16/2012
    Copyright 1987, 1989, 1992, 2003, 2009, 2012 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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