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VACTERL with Hydrocephalus

Important
It is possible that the main title of the report VACTERL with Hydrocephalus 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

  • VACTERL Association with Hydrocephalus
  • VATER Association with Hydrocephalus
  • VACTERL-H Association

Disorder Subdivisions

  • None

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.

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

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
Internet: http://www.nhfonline.org

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
Internet: http://www.hydroassoc.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/

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:  4/18/2008
Copyright  2003 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: September 04, 2014
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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