VACTERL is an acronym for a group of congenital anomalies where V stands for vertebral defects or vascular anomalies(single umbilical artery), A stands for anal atresia, C stands for cardiac defects, TE denotes trachea-esophageal fistula, R stands for renal abnormalities and L stands for limb defects such as polydactyly or syndactyly. Atleast, three of above features are considered necessary for diagnosis of the condition .
It may or may not be associated with other bowel pathologies (most commonly duodenal obstruction).
If there is accompanying hydrocephalus, then the term VACTERL-H is used.
The estimated incidence is 1 in 10,000 – 40,000 births. Few familial cases have been identified and maternal diabetes and maternal diabetes is only environmental influence implicated. It is called an association, rather than a syndrome because the complications are not pathogenetically related, tend to occur more frequently than expected and are thought to be linked to embryonic mesodermal defects.
It is thought to be autosomal recessive in nature .
It has been statistically associated with maternal exposure to exogenous sex hormones during the first trimester of pregnancy .
It has also been associated with Fanconi Anemia .