Vacterl syndrome is a rare birth defect caused by multiple chromosomal defects early in development, affecting the vertebrae, anus, heart, lungs, kidneys and limbs. It occurs in 1 in 10,000 to 40,000 newborns. Environmental factors, early developmental issues, and genetic conditions like Trisomy 18 are potential causes. Diagnosis requires at least three of the main symptoms represented by the letters in VACTERL to be present. Long term complications depend on the severity and type of defects, and may require multiple surgeries.
2. Introduction
Vacterl syndrome (Vertebral anomalies, Anal
atresia, Cardiac defects, Tracheoesophageal
fistula and/or Esophageal atresia, Renal &
Radial anomalies and Limb defects) Is caused
by multiple chromosomal defects early in
development.
3. How common is it
● According to the VACTERL
association VATER occurs in 1 in
10,000 to 40,000 newborns.
4. How it is inherited
● Environmental factors
● Early in development
● Trisomy 18
● Research
5. Symptoms and Diagnosis
Diagnosis is given if the patent has at least 3 of the following symptoms
V stands for vertebrae, which are the bones of the spinal column.
A stands for imperforate anus or anal atresia, or an anus that does not open to the outside of the body.
C is added to the acronym to denote cardiac anomalies.
TE stands for tracheoesophageal fistula, which is a persistent connection between the trachea (the
windpipe) and the esophagus (the feeding tube).
R stands for renal or kidney anomalies.
L is often added to stand for limb anomalies (radial agenesis).