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VACTERL Association

National Organization for Rare Disorders, Inc.

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

  • VATERS association
  • VACTERLS association
  • VATER association

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.

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