VATER syndrome, also known as VACTERL association, is a term
used when a child is diagnosed with birth defects in three or more body parts
. The acronym stands for: V – vertebral abnormalities. A – anal atresia (absence or closure of anus) C – cardiac (heart defects)
How common is Vater syndrome?
VATER/VACTERL association is rare. An
estimated 1 out of every 10,000 to 40,000 babies
is born with this group of conditions.
What does Vater syndrome stand for?
VACTERL stands for
vertebral defects
, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.
Is VACTERL Syndrome a disability?
If you or your dependent(s) are diagnosed with Vacterl Association and experience any of these symptoms, you may be eligible for
disability
benefits from the U.S. Social Security Administration.
Is VACTERL syndrome a rare disease?
Estimates place the birth prevalence of VACTERL association at about 1 per 10,000 to 40,000 live births. The true frequency may be difficult to determine because different diagnostic criteria are used in different studies.
Is tracheoesophageal fistula genetic?
In most cases, tracheoesophageal fistula (TEF)
is not inherited
and there is only one affected person in a family. When TEF is isolated (i.e. does not occur with any other abnormalities), it is considered a multifactorial condition (caused by a combination of various genetic and environmental factors ).
Is Bartter syndrome hereditary?
Bartter syndrome is usually
inherited in an autosomal recessive manner
, which means that both copies of the disease-causing gene (one inherited from each parent) have a mutation in an affected individual.
What is Vateral?
VACTERL or VATER association is an acronym used to describe
a series of characteristics which have been found to occur together
. 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.
What is esophageal atresia?
Esophageal atresia is
a birth defect of the swallowing tube (esophagus) that connects the mouth to the stomach
. In a baby with esophageal atresia, the esophagus has two separate sections—the upper and lower esophagus—that do not connect.
Can esophageal atresia be cured?
Without a working esophagus, it’s impossible to receive enough nutrition by mouth. Babies with EA are also more prone to infections like pneumonia and conditions such as acid reflux. Luckily,
EA is usually treatable
.
Is tracheoesophageal fistula compatible with life?
The survival rate in healthy infants who undergo surgical repair for a congenital tracheoesophageal fistula (TEF) may
be 100%
. In groups of infants who have comorbidities or who are not fit enough for early repair, the survival rate is 80-95%. In a series of 118 patients, overall survival was more than 90%.
What are the symptoms of tracheoesophageal fistula?
- Frothy, white bubbles in the mouth.
- Coughing or choking when feeding.
- Vomiting.
- Blue color of the skin, especially when the baby is feeding.
- Trouble breathing.
- Very round, full stomach.
What are the side effects of Bartter syndrome?
- Constipation.
- Frequent urination.
- Generally feeling unwell.
- Muscle weakness and cramping.
- Salt cravings.
- Severe thirst.
- Slower than normal growth and development.
How does Bartter syndrome start?
Bartter syndromes are caused
by recessive mutations in the SLC12A1 gene (type 1), the KCNJ1 gene (type 2)
, the CLCNKB gene (type 3), the BSND gene (type 4A), or both the CLCNKA and CLCNKB genes (type 4B). Genes provide instructions for creating proteins that play a critical role in many functions of the body.
Is Bartter syndrome an autoimmune disease?
Bartter syndrome is often an inherited disease. However, it
can be acquired in patients with autoimmune diseases
, especially SS.
What causes Vater?
What are the causes of Pediatric VATER Syndrome (VACTERL Association)? VACTERL is a condition that occurs as the baby is developing in their mother’s womb and is present at birth (congenital). Researchers have identified possible genetic and environmental influences, but have
not narrowed a specific cause
.
