What is VACTERL Association
VACTERL is an acronym describing birth defects that affect many parts of the body.
Each letter represents one of the malformations seen in affected children. Not every child will have all features.
VATER: This is an older term used before cardiac and limb defects were routinely included.
The Vacterl Acronym
V: Vertebral abnormalities
A: Anorectal malformations
C: Cardiac defects
TE: Tracheoesophageal Fistula
Oesophageal Atresia
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R: Renal
L: Limb
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Diagnosis
Diagnosis requires the presence of at least three VACTERL features.
Severity varies widely between individuals.
Some anomalies may not be detected until later in life.
Diagnosis is based on the defects present starting with a complete physical examination.
Other tests performed will depend on the suspected birth defects.
What causes VACTERL?
The cause of VACTERL Association remains unknown in most patients and is most likely to be caused by a combination of different factors.
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It is not considered a hereditary disorder and usually occurs in a single individual in any given family. [1]
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It is a rare disorder, estimated to occur in about only 1 per 10,000 to 40,000 births. [1,2]
Clinical Importance:
Management of VACTERL Association involves surgical correction of congenital anomalies and long term follow up to address associated issues. VACTERL Association should also be considered in adults born with OA/TOF, even if the diagnosis was not recognised in childhood. [3]
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