VACTERL association

Last revised by Dr Joshua Yap on 27 Jul 2022

VACTERL is an acronym that describes a non-random constellation of congenital anomalies. It is not a true syndrome as such and is equivalent to the VATER anomaly.

Epidemiology

The estimated incidence is 1 in 10,000-40,000 births 3.

Associations

Several conditions have features in common with VACTERL including 9:

Pathology

The acronym VACTERL derives from:

At least three of the above features (in each category) are considered necessary for the diagnosis of this condition 1,3.

The association does not include cranial/CNS anomalies. If there is accompanying hydrocephalus, the term VACTERL-H is used by some authors 3.

Genetics

The vast majority of VACTERL associations are thought to have a sporadic occurrence with occasional autosomal recessive forms. There is no known underlying genetic defect 8.

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Cases and figures

  • Case 1
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  • Case 2
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  • Case 3
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