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Diseases

Genetic and Rare Diseases Information Center (GARD)

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VACTERL association


Other Names for this Disease
  • VATER association
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Overview



What is VACTERL association?

Is genetic testing available for VACTERL association?

How is VACTERL association diagnosed?

What is the prognosis for children born with VACTERL association?


What is VACTERL association?

VACTERL association is a non-random association of birth defects that affects multiple parts of the body. The term VACTERL is an acronym with each letter representing the first letter of one of the more common findings seen in affected individuals: (V) = vertebral abnormalities; (A) = anal atresia; (C) = cardiac (heart) defects; (T) = tracheal anomalies including tracheoesophageal (TE) fistula; (E) = esophageal atresia; (R) = renal (kidney) and radial (thumb side of hand) abnormalities; and (L) = other limb abnormalities. Other features may include (less frequently) growth deficiencies and failure to thrive; facial asymmetry (hemifacial microsomia); external ear malformations; intestinal malrotation; and genital anomalies. Intelligence is usually normal. The exact cause of VACTERL association is unknown; most cases occur randomly, for no apparent reason.[1]
Last updated: 12/26/2010

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

How is VACTERL association diagnosed?

Prenatal diagnosis of VACTERL association can be challenging because certain component features of the condition can be difficult to detect prior to birth. Therefore, the diagnosis of VACTERL association is typically based on features that are seen when a baby is born or in the first few days of life. The diagnosis is based on having at least three of the following features (which make up the acronym VACTERL): vertebral defects, commonly accompanied by rib anomalies; imperforate anus or anal atresia; cardiac (heart) defects; tracheo-esophageal fistula with or without esophageal atresia; renal (kidney) anomalies including renal agenesis, horseshoe kidney, and cystic and/or dysplastic kidneys; and limb abnormalities.[2]

Additional types of abnormalities have also been reported in affected individuals and may be used as clues in considering a diagnosis of other conditions with overlapping features. Depending on the features present, some other conditions that may be considered when diagnosing a child who has features of VACTERL association (differential diagnosis) may include Baller-Gerold syndrome, CHARGE syndrome, Currarino disease, 22q11.2 microdeletion syndrome, Fanconi anemia, Feingold syndrome, Fryns syndrome, MURCS association, oculo-auriculo-vertebral spectrum, Opitz G/BBB syndrome, Pallister-Hall syndrome, Townes-Brocks syndrome, and VACTERL with hydrocephalus.[2]
Last updated: 7/7/2013

What is the prognosis for children born with VACTERL association?

Children with VACTERL association may have many medical concerns; the specific problems vary widely. However, with optimal surgical correction, the prognosis can be favorable. While some patients will continue to be affected by their congenital malformations throughout life, cognitive impairment is not a symptom and many will survive and become happy, healthy adults.[3][4] It should be noted that for the best possible outcome, infants with this condition will need to be followed by a team of medical and developmental specialists.[3]
Last updated: 1/28/2014

References
  1. VACTERL Association. National Organization for Rare Disorders. September 27, 2010; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=VACTERL%20Association. Accessed 12/25/2010.
  2. Benjamin Solomon. VACTERL/VATER association. Orphanet. December 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=887. Accessed 7/5/2013.
  3. Castori M. VACTERL Association. National Organization for Rare Disorders (NORD). 2012; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/486/viewAbstract. Accessed 1/28/2014.
  4. Solomon B. VACTERL/VATER association. Orphanet. December 2011; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=603. Accessed 1/28/2014.