VACTERL association

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VACTERL association
Other names	VATER association, VATER syndrome, VACTERL syndrome
Newborn with radial aplasia of the right arm, is displaying a limb anomaly included in VACTERL association
Specialty	Medical genetics
Treatment	surgical 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

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]

• V -
  Vertebral anomalies
• A -
  Anorectal malformations
• C -
  Cardiovascular anomalies
• T - Tracheoesophageal fistula
• E - Esophageal atresia
• R - Renal (Kidney) and/or radial anomalies
• L - Limb defects

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.^[5]

Anal defects

Anal atresia or imperforate anus is seen in about 55 to 90 percent of patients with VACTERL association. These anomalies are usually noted at birth.^[7] It often require surgery in the first days of life. Sometimes babies will require several surgeries to fully reconstruct the intestine and anal canal.^[5]

Cardiac defects

Approximately 40-80 percent of patients with VACTERL association have been reported to have

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.^[citation needed]

Pathology

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

Diagnosis

Differential diagnosis

• Baller–Gerold syndrome^[5]
• CHARGE syndrome^[5]
• Currarino syndrome^[5]
• DiGeorge syndrome^[5]
• Fanconi anemia^[5]
• Feingold syndrome^[5]
• Fryns syndrome^[5]
• MURCS association^[5]
• Oculo-auriculo-vertebral syndrome^[5]
• Opitz G/BBB syndrome^[5]
• Holt–Oram syndrome^[5]
• Pallister–Hall syndrome^[5]
• Townes–Brocks syndrome^[5]
• VACTERL with hydrocephalus^[5][9]

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.^{[citation needed]}

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.^[10] However, no single cause was identified that links all these conditions together. Therefore, this VACTERL is termed as "association" instead of a "syndrome".

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-esophageal, renal/kidney, and limb defects where as VATER only has vertebral, anal, trachea-esophageal, and renal defects. The "R" in VATER represented radial dysplasia. Though the differences are clear, the physical defects vary from case to case.^{[citation needed]}

See also

• 22q11 deletion syndrome
• Absent radius
• CHARGE Association
• Holt–Oram syndrome
• Feingold syndrome
• Pallister–Hall syndrome
• Townes–Brocks syndrome

References

Further reading

• McMullen, KP; Karnes, PS; Moir, CR; Michels, VV (Jun 28, 1996). "Familial recurrence of tracheoesophageal fistula and associated malformations". American Journal of Medical Genetics. 63 (4): 525–8.
  PMID 8826429
  .

External links

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