VACTERL with Hydrocephalus
National Organization for Rare Disorders, Inc.
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General Discussion
VACTERL with hydrocephalus is an extremely rare genetic disorder in which the multisystem features of VACTERL association occur in addition to hydrocephalus. The term VACTERL is an acronym with each letter representing the first letter of the more common findings seen in affected children:
(V) = vertebral abnormalities
(A) = anal atresia
(C) = cardiac (heart) defects
(T) = tracheoesophageal fistula
(E) = esophageal atresia
(R) = renal (kidney) abnormalities
(L) = limb abnormalities
Hydrocephalus is a condition in which accumulation of excessive cerebrospinal fluid (CSF) in the skull causes pressure on the tissues of the brain, resulting in a variety of symptoms. VACTERL with hydrocephalus is inherited as an autosomal recessive or X-linked recessive trait. VACTERL with hydrocephalus is a distinct genetic disorder separate from VACTERL association, a nonrandom association of birth defects.
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
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
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/
Hydrocephalus Association
- 4340 East West Highway Ste 950
- Bethesda, MD 20814
- USA
- Tel: (301)202-3811
- Fax: (301)202-3813
- Tel: (888)598-3789
- Email: info@hydroassoc.org
- Website: http://www.hydroassoc.org
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
National Hydrocephalus Foundation
- 12413 Centralia Rd.
- Lakewood, CA 90715-1653
- USA
- Tel: (562)924-6666
- Fax: (562)924-6666
- Tel: (888)857-3434
- Email: nhf@earthlink.net
- Website: http://www.nhfonline.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: 4/18/2008
Copyright 2003 National Organization for Rare Disorders, Inc.
