VACTERL association

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). Note that this pattern is a recognized association, as opposed to a syndrome, because there is no known pathogenetic cause to explain the grouped incidence.

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

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. Causes of this association are debated, though it appears to be genetic according to certain studies. 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.

Signs and symptoms

The following features are observed with VACTERL association:[2][3]

Although it was not conclusive whether VACTERL should be defined by at least two or three component defects,[4] it is typically defined by the presence of at least three of the above congenital malformations.[5]

Spine

Vertebral anomalies, or defects of the spinal column, usually consist of small (hypoplastic) vertebrae or hemivertebra where only one half of the bone is formed. About 80 percent of patients with VACTERL association will have vertebral anomalies.[6] In early life these rarely cause any difficulties, although the presence of these defects on a chest x-ray may alert the physician to other defects associated with VACTERL. Later in life these spinal column abnormalities may put the child at risk for developing scoliosis, or curvature of the spine.

Anal defects

Anal atresia or imperforate anus is seen in about 55 percent of patients with VACTERL association. These anomalies are usually noted at birth and often require surgery in the first days of life. Sometimes babies will require several surgeries to fully reconstruct the intestine and anal canal.

Cardiac defects

Up to 75 percent of patients with VACTERL association have been reported to have congenital heart disease. The most common heart defects seen with VACTERL association are ventricular septal defect (VSD), atrial septal defects and tetralogy of Fallot. Less common defects are truncus arteriosus and transposition of the great arteries. It is subsequently thought that cardiac defects should be considered an extension of VACTERL.[4]

Trachea and esophagus

Esophageal atresia with tracheo-esophageal fistula (TE fistula) is seen in about 70 percent of patients with VACTERL association, although it can frequently occur as an isolated defect. 15 to 33 percent of patients with TE fistulas will also have congenital heart disease. However these babies usually have uncomplicated heart defects, like a ventricular septal defect, which may not require any surgery.

Kidneys

Kidney defects are seen in approximately 50 percent of patients with VACTERL association. In addition, up to 35 percent of patients with VACTERL association have a single umbilical artery (there are usually two arteries and one vein) which is often associated with additional kidney or urologic problems. Renal abnormalities in VACTERL association can be severe, with incomplete formation of one or both kidneys or urologic abnormalities such as obstruction of outflow of urine from the kidneys or severe reflux (backflow) of urine into the kidneys from the bladder. These problems can cause kidney failure early in life and may require kidney transplant. Many of these problems can be corrected surgically before any damage can occur.

Limbs

Limb defects occur in up to 70 percent of babies with VACTERL association and include a displaced or hypoplastic thumb, extra digits (polydactyly), fusion of digits (syndactyly) and forearm defects such as radial aplasia. Babies with limb defects on both sides tend to have kidney or urologic defects on both sides, while babies with limb defects on only one side of the body tend to have kidney problems on that same side.

Extension

Features secondary to VACTERL components are frequent enough to be considered an extension of VACTERL. These include: single umbilical artery, ambiguous genitalia, abdominal wall defects, diaphragmatic hernia, intestinal and respiratory anomalies, and oligohydramnios sequence defects.[4][7] Cardiac defects are thought to fit in this category.[4]

Growth

Many babies with VACTERL are born small and have difficulty with gaining weight. Babies with VACTERL association, however, do tend to have normal development and normal intelligence.

Pathology

Patients with abnormal cardiac and kidney function may be more at risk for hemolytic uremic syndrome

Diagnosis

Differential diagnosis

Management

Epidemiology

The incidence of VACTERL association is estimated to be approximately 1 in 10,000 to 1 in 40,000 live-born infants.[5] It is seen more frequently in infants born to diabetic mothers. While most cases are sporadic, there are clearly families who present with multiple involved members.

History

The acronym VATER association was first described by Linda Quan, an emergency room physician and David Smith, a man who was considered the father of dysmorphology in 1972 to define a non-random co-occurrence of the listed defects. Years later, research revealed that cardiac and renal abnormalities were common in the association, and the acronym was changed to VACTERL.[9] The differentiation of the acronyms VACTERL and VATER is due to the variation in defects determined at or prior to birth. VACTERL contains vertebral, anal, cardiac, trachea-esophogeal, renal/kidney, and limb defects where as VATER only has vertebral, anal, trachea-esophogeal, and renal defects. The "R" in VATER represented radial dysplasia. Though the differences are clear, the physical defects vary from case to case.

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See also
  • 22q11 deletion syndrome
  • Absent radius
  • CHARGE Association
  • Feingold syndrome
  • Pallister-Hall syndrome
  • Townes-Brocks syndrome

References
  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.
  2. Gigante, Joseph (2006). First Exposure to Pediatrics. New York: McGraw-Hill, Medical Pub. Division. p. 351. ISBN 978-0071441704.
  3. Shaw-Smith, C (July 2006). "Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology". Journal of Medical Genetics. 43 (7): 545–54. doi:10.1136/jmg.2005.038158. PMC 2564549. PMID 16299066.
  4. Rittler, M; Paz, JE; Castilla, EE (Jun 28, 1996). "VACTERL association, epidemiologic definition and delineation". American Journal of Medical Genetics. 63 (4): 529–36. doi:10.1002/(sici)1096-8628(19960628)63:4<529::aid-ajmg4>3.0.co;2-j. PMID 8826430.
  5. Solomon, BD (Aug 16, 2011). "VACTERL/VATER Association". Orphanet Journal of Rare Diseases. 6: 56. doi:10.1186/1750-1172-6-56. PMC 3169446. PMID 21846383.
  6. "VACTERL association". Genetics Home Reference. Retrieved 29 October 2012.
  7. Khoury, MJ; Cordero, JF; Greenberg, F; James, LM; Erickson, JD (May 1983). "A population study of the VACTERL association: evidence for its etiologic heterogeneity". Pediatrics. 71 (5): 815–20. PMID 6835768.
  8. Corsello, G; Giuffrè, L (Jan 1, 1994). "VACTERL with hydrocephalus: a further case with probable autosomal recessive inheritance". American Journal of Medical Genetics. 49 (1): 137–8. doi:10.1002/ajmg.1320490133. PMID 8172244.
  9. Placa, Simona; Mario, Gluffre (2013). "Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype?". Italian Journal of Pediatrics. 39 (1): 1–8. doi:10.1186/1824-7288-39-45. PMC 3726359. PMID 23842449.

Further reading
Classification
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