VACTERL association

VACTERL association
Other namesVATER association, VATER syndrome, VACTERL syndrome
Newborn with radial aplasia of the right arm, is displaying a limb anomaly included in VACTERL association
SpecialtyMedical genetics
Treatmentsurgical repair

The VACTERL association (also VATER association, and less accurately VACTERL syndrome) refers to a recognized group of birth defects which tend to co-occur (see below). This pattern is a recognized association, as opposed to a syndrome, because there is no known pathogenetic cause to explain the grouped incidence.

Each child with this condition can be unique. At present this condition is treated after birth with issues being approached one at a time. Some infants are born with symptoms that cannot be treated and they do not survive. Also, VACTERL association can be linked to other similar conditions such as Klippel Feil and Goldenhar syndrome including crossovers of conditions.

No specific genetic or chromosome problem has been identified with VACTERL association. VACTERL can be seen with some chromosomal defects such as Trisomy 18 and is more frequently seen in babies of diabetic mothers. VACTERL association, however, is most likely caused by multiple factors.[1]

VACTERL association specifically refers to the abnormalities in structures derived from the embryonic mesoderm.

  1. ^ Hersh JH, Angle B, Fox TL, Barth RF, Bendon RW, Gowans G (2002). "Developmental field defects: coming together of associations and sequences during blastogenesis". Am J Med Genet. 110 (4): 320–3. doi:10.1002/ajmg.10429. PMID 12116204.