Vater Syndrome

Table of Contents

Pediatric Health Care workers often refer to VATER syndrome as VATER association syndrome, VATER association disorders, and VACTERL syndrome.

VATER is an acronym for a group of congenital disabilities, often occurring at the same time.

  • V= vertebrae defect
  • A= anus
  • T= tracheal
  • E= esophagus
  • R= renal (kidney)

This association was first discovered and described by two health care clinicians, Linda Quan, an emergency ward physician, and David Smith, a gentleman considered to be the father of dysmorphology (the study of the malformation of anatomical structures of the body) in 1972. They employed the acronym VATER to define a non-common co-occurrence of a list of defects.

Several years later, researchers unveiled the close association of cardiac and renal abnormalities, and the acronym was later updated to VACTERL.

  • V= vertebral
  • A= anal atresia
  • C= cardiac defects
  • T= trachea
  • E= esophageal
  • R= renal
  • L= limb defects

Though there is a difference between the two acronyms, physical defects vary from case to case. The accurate incidence and entire worldwide prevalence data of VATER syndrome are not yet publicly available because the association involves variable diagnostic criteria.

But what is known is that the syndrome is reported to occur in less than nine infants per 100,000 births, and an annual incidence of 1/10,000 – 1/40,000 live births is registered.

No particular geographic distribution of this prevalence or predominance in any race or ethnic group is not yet found.    

Causes

VATER syndrome or VACTERL syndrome specifically describes the abnormalities in structures derived from the embryonic mesoderm, but VATER syndrome’s exact etiology is unknown.

Medical professionals believe these defects occur early in pregnancy. VATER syndrome cannot genetically trace as not a single gene mutation has been identified yet, but a combination of genetic with environmental factors is suspected to be involved.

Clinically described, a group of congenital malformation is discovered at birth or in the first days of life. These uncommon malformations are used as clues in considering other possible causes of the condition.

However, VATER syndrome or VACTERL association can be linked to some chromosomal defects such as Trisomy 18, and it is more common with babies of diabetic mothers.

Signs and Symptoms

VATER syndrome is typically defined by the presence of three or more of the following congenital malformations:

Vertebral defects

Almost all individuals with VATER syndrome have defects in the spinal bones (vertebrae). These defects include:

  • Extra bones in the spine
  • Missing bones in the spine
  • Fused boned in the spine
  • Abnormally shaped bones
  • Scoliosis (curvy spine)
  • Extra ribs

Anal defects

An anal defect association is found in about 60 to 90 percent of persons with VATER syndrome, defects such as:

  • Blockage of the anal opening by a thin covering
  • Absence of passageway between the rectum (bottom of the large intestine) and the anus, so fecal matter cannot pass from the intestine out of the body.

These anal problems can result to:

  • Vomiting
  • Swollen abdomen
  • Very low or No bowel movements

Cardiac defects

In the acronym VACTERL, “C” stands for cardiac defects, and about 50 to 80 percent of VATER syndrome patients have these defects.

These defects include:

  • Atrial septal defect: Presence of a hole in the atrium (the wall that divides the heart’s two upper chambers).
  • Ventricular septal defect (VSD): Presence of a hole in the ventricles (a division of the right and left chambers of the heart).
  • Hypoplastic left heart Syndrome: A heart disorder where the heart’s left side does not form properly and prevents blood from flowing through the heart.
  • Tetralogy of Fallot: This is a group of four heart defects; VSD, overriding aorta, pulmonary stenosis, and thickening of the right ventricle (right ventricular hypertrophy).
  • Patent Ductus Arteriosus (PDA): This occurs when there is an opening in one of the heart’s blood vessels. This opening prevents blood from going to the lungs to collect oxygen.
  • Transposition of the great arteries: transposing of the two main arteries of the heart.

Symptoms of these heart defects include:

TracheoEsophageal fistula

Trachea and esophagus defects are close associated (tracheoesophageal defects). Tracheoesophageal fistula is an unusual connection between the trachea (windpipe) and the esophagus.

The trachea and esophagus are not usually connected, as a connection would interfere with the food passing to the stomach via the esophagus, causing diversion of food into the lungs.

Symptoms of this defect include:

Renal defects

50% of VATER syndrome patients suffer from renal defects. These renal defects can cause frequent=nt uncontrolled urination and urinary tract infections.

These defects may include:

  • A blockage of urine outlets of the kidney
  • Poorly formed kidney(s)
  • Kidneys that are wrongly placed
  • Backflow of urine from the bladder and urethra into the kidney

Male patients of VATER syndrome can present hypospadias, a defect where the opening of the penis is on the bottom instead of the tip.

Limb defects

Up to 70% of infants with VATER syndrome or VACTERL association disease have limb defects. These limb defects include:

  • Poorly developed forearm
  • Extra fingers or toes (polydactyly)
  • Webbed fingers or toes (syndactyly)
  • Poorly developed fingers or toes
  • Missing thumbs

Generally, some other symptoms have been associated with VATER/VACTERL syndrome, such as:

  • Stunted growth
  • Failure to gain weight
  • Hearing defects
  • Pulmonary defects
  • Facial asymmetry (uneven facial feature)
  • Genital complications

NOTE: VATER syndrome or VACTERL does not affect learning ability or intellectual development.

Diagnosis

 Unlike other disease processes, VATER/VACTERL syndrome does not have one medical test that can definitively or accurately diagnose it or rule it out.

Also, there are no current genetic tests that can foretell or diagnose the condition. Doctors draw a diagnostic graph based on the physically examined symptoms and from deductions of specialized organ-specific tests.

Such tests include imaging tests like X-ray to identify vertebra abnormalities, renal ultrasound to detect kidney malformations.

Imaging tools (like an obstetric sonogram) can help diagnose the condition while the baby is still in the womb. Babies list to possess this syndrome must have at least three VATER/VACTERL defects.

NOTE: It is necessary to rule out other genetic syndromes or conditions that may share VATER/VACTERL syndrome features or symptoms.

Treatment

 VATER/VACTERL treatment is specifically based on the type of congenital disabilities involved in each case. Surgeries can fix about 85% of these defects, including disorders involving anal opening, kidneys, cardiac, and bones of the spine.

All these procedures are conducted after the child is born. Children born with VATER syndrome require lifelong monitoring and treatment to prevent future problems.

VATER/VACTERL syndrome is associated with many systems of the body, and so a few different specialists are involved in treating the syndrome, including:

  • Orthopedic specialist for the bones
  • Cardiologist for the heart defects
  • Gastroenterologist Specializes in issues of the trachea and esophageal tract.
  • Urologists are specialists for kidneys, bladder, and other parts of the urinary system.   
  • Physical therapists and occupational therapists may also be required.

Summary

 The prognosis of VATER/VACTERL syndrome is good when an ideal surgical correction is achievable. However, some children may continue to be affected by their congenital malformations throughout their life. More importantly, VATER/VACTERL patients do not suffer neurocognitive impairment.

Resources;