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Genetic and Rare Diseases Information Center (GARD)

VACTERL association

Other Names for this Disease
  • VATER association
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My brother was born with VACTERL association. My wife is pregnant, and I am concerened about my family history. Is there a genetic component to this condition and is it possible I also have this genetic component, even though I'm healthy? Is there special testing my wife can have during the pregnancy to know if our fetus may have it?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Is VACTERL association inherited, or does it have a genetic component?

A specific, consistent, genetic abnormality has not been identified in individuals with VACTERL association.[1] A very few sporadic cases of VACTERL association have been associated with mutations in FGF8, HOXD13, ZIC3, PTEN, FANCB, FOXF1, and TRAP1 genes and mitochondrial DNA.[2]

When a condition is defined as being an "association", it means that it is made up of a series of specific features which have been found to occur together more often than it would happen due to chance alone, but for which no specific cause has been determined (idiopathic). For indiviuals with VACTERL association, the risk for it to recur in either a sibling or a child is usually quoted as being around 1% (1 in 100). There are very few reports of recurrence of the VACTERL association in families in the literature.[1]

Researchers have stated that when dysmorphic features, growth abnormalities, and/or learning disability are present in addition to the features of VACTERL association, it may actually be due to a syndrome or chromosome abnormality; if this is the case, the recurrence risk for a family member would be the risk that is associated with that specific diagnosis. Genetic disorders which have features in common with VACTERL association include Feingold syndrome, CHARGE syndrome, Fanconi anemia, Townes-Brocks syndrome, and Pallister-Hall syndrome. It has also been recognized that there is a two‐ to threefold increase in the incidence of multiple congenital malformations (with features that have overlapped with those of VACTERL association) in children of diabetic mothers.[3]
Last updated: 7/6/2015

Is genetic testing available for VACTERL association?

Because there is no known cause of VACTERL association, clinical genetic testing is not available for the condition. If an individual has a specific diagnosis of another syndrome or genetic condition in addition to the features of VACTERL association, genetic testing may be available for that condition.

GeneTests lists the names of laboratories that are performing genetic testing for VACTERL association. Although no clinical laboratories are listed for this condition, there are some research laboratories performing genetic testing; to see a list of these laboratories, click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
Last updated: 12/25/2010

Is there specific testing available during pregnancy to know if a fetus has VACTERL association?

There is no diagnostic testing for VACTERL association during pregnancy. However, many structural abnormalities in the fetus can be seen by an ultrasound scan in the second trimester, usually between 18 and 20 weeks, when anatomic details are visible. Results of an ultrasound may give information about whether additional ultrasounds (or a more specialized ultrasound) may be indicated, or if another type of fetal testing may be indicated. A normal ultrasound result may help to provide relief to individuals with a family history of a condition such as VACTERL association. In addition to a fetal ultrasound, fetal echocardiography can be performed, which can provide a detailed picture of the fetal heart. It may be used to confirm or rule out a congenital heart defect, which is a common finding in individuals with VACTERL association. Individuals interested in a fetal echocardiogram should speak with their health care provider about the availability, risks and limitations of this test.[4]
Last updated: 12/25/2010

How can I find a genetics professional in my area?

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
Last updated: 7/15/2016

Other Names for this Disease
  • VATER association
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.