VACTERL-Assoziation

VACTERL

association • VACTERL - Ganzer Fall bei Radiopaedia

Smith, P. VACTERL. Case study, Radiopaedia.org. (accessed on 08 Nov 2022) https://doi.org/10.53347/rID-11122 • CC by-nc-sa 3.0 (modified)

VACTERL

association • VACTERL - Ganzer Fall bei Radiopaedia

St-Amant, M. VACTERL. Case study, Radiopaedia.org. (accessed on 08 Nov 2022) https://doi.org/10.53347/rID-22547 • CC by-nc-sa 3.0 (modified)

VACTERL

association • VACTERL association - Ganzer Fall bei Radiopaedia

Stanislavsky, A. VACTERL association. Case study, Radiopaedia.org. (accessed on 08 Nov 2022) https://doi.org/10.53347/rID-47640 • CC by-nc-sa 3.0 (modified)

Newborn with

an imperforate anus. AP radiograph of the spine (left) shows multiple segmentation anomalies in the sacrum. Sagittal US of the left kidney (above right) is unremarkable while sagittal US of the right renal fossa (below right) shows a prominent right adrenal gland and absence of the right kidney.The diagnosis was VACTERL association with vertebral body anomalies and agenesis of the right kidney.

pediatricimaging.org • CC-by-nc-sa 4.0

Teenager with

imperforate anus at birth: The diagnosis was VACTERL association with radial ray hypoplasia.

pediatricimaging.org • CC-by-nc-sa 4.0

Radiopaedia • CC-by-nc-sa 3.0 • de

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:

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) 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 .