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VACTERL with Hydrocephalus

National Organization for Rare Disorders, Inc.


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.


  • 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.


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



National Hydrocephalus Foundation

12413 Centralia Rd.

Lakewood, CA 90715-1653


Tel: (562)924-6666

Fax: (562)924-6666

Tel: (888)857-3434



Hydrocephalus Association

4340 East West Highway Ste 950

Bethesda, MD 20814


Tel: (301)202-3811

Fax: (301)202-3813

Tel: (888)598-3789



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



Tracheo Oesophageal Fistula Support

St. George's Centre

91 Victory Road


Nottingham, NG4 2NN

United Kingdom

Tel: 4401159613092

Fax: 4401159613097



VATER Connection Support



Birth Defect Research for Children, Inc.

976 Lake Baldwin Lane

Orlando, FL 32814


Tel: (407)895-0802



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


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 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 or email

Last Updated:  4/18/2008

Copyright  2003 National Organization for Rare Disorders, Inc.

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