VACTERL association

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:

• Alagille syndrome
• Baller-Gerold syndrome
• CHARGE syndrome
• Currarino syndrome
• Fanconi anemia
• Holt-Oram syndrome

Pathology

The acronym VACTERL derives from:

• V: vertebral anomalies
  • hemivertebrae
  • congenital scoliosis
  • caudal regression
  • spina bifida
• A: anorectal anomalies
  • anal atresia
• C: cardiac anomalies; cleft lip
• TE: tracheo-esophageal fistula +/- esophageal atresia
• R: renal anomalies; radial ray anomalies
• L: limb anomalies
  • polydactyly
  • oligodactyly

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.