VACTERL association
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The VATER or VACTERL association is a nonrandom association of birth defects. The reason it is called an association, rather than a syndrome is that all of the birth defects are linked, however it is still unknown which genes, or sets of genes cause these birth defects to occur.
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[edit] Features
- V - Vertebral anomalies
- A - Anal atresia
- C - Cardiovascular anomalies
- T - Tracheoesophageal fistula
- E - Esophageal atresia
- R - Renal and/or radial anomalies
- L - Preaxial limb anomalies (in front of or above the central axis of the limb).
The diagnosis is made if at least three of the seven defects are present in an infant.
[edit] Epidemiology
The VATER association has an estimated incidence of 1.6 cases per 10,000 live births. It is seen more frequently in infants born to diabetic mothers. It is rarely seen more than once in one family.
[edit] Pathology
Patients with abnormal cardiac and kidney function may be more at risk for hemolytic uremic syndrome.
[edit] See Also
[edit] External links
- Mendelian Inheritance in Man (OMIM) 192350 VATER Association
- VACTERL or VATER Association -Cincinnati Children's Hospital Medical Center
- VATER/VACTRL Association - University of Kansas Medical Center page with links to various information and support site
site for families to meet and seek support
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