VACTERL-Assoziation

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 .

Pathology

The acronym VACTERL derives from:

At least three of the above features (in each category) is considered necessary for the diagnosis of this condition .

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

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 .