National Organization for Rare Disorders, Inc.
It is possible that the main title of the report VACTERL Association is not the name you expected.
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).
Birth Defect Research for Children, Inc.
- 976 Lake Baldwin Lane
- Orlando, FL 32814
- Tel: (407)895-0802
- Email: email@example.com
- 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
- Tel: (312)987-9085
- Fax: (312)987-9086
- Email: firstname.lastname@example.org
- Website: http://www.eatef.org
Fetal Hope Foundation
- 9786 South Holland Street
- Littleton, CO 80127
- Tel: (303)932-0553
- Tel: (877)789-4673
- Email: email@example.com
- 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 firstname.lastname@example.org
- Website: http://www.marchofdimes.org and nacersano.org
- 43 New Scotland Ave., MC-28
- Albany Medical Center
- Albany, NY 12208-3478
- Tel: (518)262-5079
- Fax: (518)262-5528
- Tel: (800)776-6539
- Email: email@example.com
- Website: http://www.oley.org
- 1705 Wintergreen Parkway
- Normal, IL 61761
- 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: firstname.lastname@example.org
- Website: http://www.tofs.org.uk
VATER Connection Support
- Email: email@example.com
- 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.
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