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VATER Syndrome

VATER Syndrome



Overview

VATER syndrome (VACTERL association) is a group of growth abnormalities (birth defects) that happen in the early stages of embryo development during pregnancy. The term VATER is an acronym that identifies parts of the body that didn’t form properly during fetal development. Each case of VATER syndrome is unique. A diagnosis occurs if your child has at least three parts of their body affected by symptoms.

What does the acronym VATER/VACTERL stand for?

The acronym VATER stands for parts of the body affected by symptoms including:

Vertebrae.

Anus.

Trachea.

Esophagus.

Renal (kidney).

A redefinition of VATER syndrome changed the acronym to VACTERL to highlight other parts of the body affected by this condition including:

Cardiac (heart).

Limbs and radius.

Symptoms

Symptoms of VATER syndrome affect different parts of the body (anatomical structure) that can be present at birth (congenital) or appear later in life. Symptoms are unique to each person diagnosed with the condition and the symptoms that affect one child could vary greatly in another.

Vertebrae symptoms

The vertebrae are small bones in the spinal column. VATER syndrome can affect how the vertebrae form during fetal development in the uterus. Symptoms that affect the vertebrae include:

Curvature of the spine (scoliosis).

Malformed vertebrae (hemivertebrae, butterfly-shaped vertebrae, fused vertebrae).

Missing tailbone.

Rib abnormalities (missing ribs, an extra rib, fused ribs or split ribs).

Lower gastrointestinal tract (anus) symptoms

People diagnosed with VATER syndrome could have symptoms that affect the shape of intestine that leads to the anus (anal atresia). This makes it difficult for you to pass stool (poop) because the opening is either too small or in the wrong place.

Cardiac (heart) symptoms

Symptoms of VATER syndrome could affect how the heart forms and functions including:

Aorta and pulmonary artery switch positions.

Atrial septal defects (ASD).

Fast heartbeat (tachycardia).

Heart failure.

Hypoplastic left heart syndrome.

Rapid breathing and/or wheezing.

Tetralogy of Fallot.

Ventricular septal defects (VSD).

Symptoms that affect the heart can be life-threatening. In some cases, small holes in the heart from VSD or ASD could close or heal on their own over time.

Trachea and esophagus symptoms

The most common symptom of VATER syndrome is a when the trachea and the esophagus (tracheoesophageal fistula) or the esophagus and the stomach (esophageal atresia) don’t connect where they should. These conditions could cause:

Feeding difficulties.

Respiratory infections (pneumonia).

Swallowing problems.

Trouble breathing.

Renal symptoms

Renal symptoms affect the kidneys and urinary tract. Renal symptoms could include:

Abnormally positioned urethral opening (hypospadias).

Kidneys forming incorrectly (renal dysplasia).

Kidneys located in the wrong place (renal ectopia).

Urine backflow into the bladder (vesicoureteral reflux).

Urine collecting in the kidneys (hydronephrosis).

Urinary tract infections.

Radius and limb symptoms

VATER syndrome symptoms can affect the radius, which is the thumb side of your forearm. Radius symptoms could include:

Missing radius (radial aplasia).

Underdeveloped radius (radial hypoplasia).

Missing thumb.

Extra bone in the thumb (triphalangeal thumb).

Symptoms can also affect other limbs on the body (the arms and legs beyond the radius) including:

Clubfoot.

Difficulty using certain fingers or toes (hypoplasia).

Extra fingers or toes (polydactyly).

Fused forearm bones (radioulnar synostosis).

Webbed fingers and toes (syndactyly).

Unspecified symptoms

VATER syndrome can cause symptoms that aren’t specified in the acronym of the condition. Additional symptoms could include:

Abnormally shaped ears.

Asymmetrical facial features.

Difficulty breathing out of the nose (choanal atresia).

Fixed spinal cord (tethered spinal cord).

Growing slower than normal.

Intestines growing outside of the body (omphalocele).

Narrow larynx (voice box).

Causes

The cause of VATER syndrome is unknown. Research is ongoing to understand what causes this condition, but studies suggest it could result from a combination of environmental and genetic changes that begin in the early stages of pregnancy when the embryo develops.

Diagnosis

A diagnosis of VATER syndrome usually happens during a prenatal exam before birth or during early infancy. Sometimes, symptoms aren’t noticeable during childhood and you could receive a diagnosis in adulthood.

VATER syndrome is a diagnosis of exclusion. This is when your provider will test and rule out all other potential conditions. Your provider will perform a complete physical exam to look for at least one birth defect that is present in a body part identified in the acronym of the condition. Most cases of VATER syndrome have a minimum of three parts of the body affected.

After a physical exam, your provider will offer additional tests — like an X-ray, ultrasound or blood tests — to locate and treat any symptoms that could be life-threatening, especially symptoms that affect the heart and kidneys.

Treatment

Treatment for VATER syndrome focuses on reducing symptoms caused by malformations of the body during fetal development. Treatment is unique for each person diagnosed with the condition and could include:

Surgery to repair malformations of the body.

Physical or occupational therapy to improve muscle strength and range of motion.

Medicine to alleviate symptoms.

Treatment with surgery could occur within the first days of life to prevent complications. Repeat surgery might be necessary as your child grows.

Type of Doctor Department : A pediatrician and a pediatric surgeon

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