Vater Syndrome

What is VATER syndrome?

VATER syndrome is also known as VATER association, VATERS association, VACTERL association or VACTERLS association.

VATER syndrome is a non random association of birth defects that affects many different body systems.

VACTERLS means vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, limb abnormalities and single umbilical artery.

It is known as an association rather than a syndrome because the complications are not necessarily pathogenically related but are seen together more than mere chance expects.

Each child that has this association can be unique in symptomology. Some children have more abnormalities than those that are characteristic of this association.

Description

Children affected with VATER are born with congenital defects and sometimes these defects are seen on prenatal ultrasound. Some of the characteristics are not seen until later on in life. VATER is a diagnosis of exclusion. The most prudent diagnosis of VATER seems to have at least one abnormality in all three affected body areas (abdomen, limbs and pelvis). It would be a probable diagnosis if there are two or more abnormalities in two areas.

The association is treated after birth, one at a time and sometimes the abnormalities are too severe and the child dies shortly after birth. Most studies point to genetics as the cause. VATER can be associated with other syndromes like Goldenhar Syndrome or Klippel Feil.

VATER can be seen in children with other syndromes like edwards syndrome and is more often seen in children with mothers that have diabetes.

Signs and Symptoms

• Defects in the spine (misshapen spines, fused/missing/extra vertebrae)
• Scoliosis or sacral agenesis (absence of tailbone)
• Rib defects (absent ribs, extra ribs, rib fusions and splitting ribs)
• Anal atresia (narrowing or blockage of the anus)
• Abnormalities of the genitalia (ambiguous genitalia)
• Abnormalities of the urinary system (abnormal reflux of urine, frequent urinary tract infections or misplacement of urethra)
• Cardiac defects (ventricular/atrial septal defects, tetralogy of fallot, truncus arteriosus or transposition of the great arteries)
• Tracheo-esophageal fistula (causing pneumonia secondary to aspiration)
• Esophageal atresia (esophagus does not carry food to the stomach)
• Kidney abnormalities (missing one+ kidney(s), abnormally developed/misshapen kidneys)
• Limb abnormalities (poorly developed limbs)
• Fusion of digits, missing thumbs, extra bones in thumbs or webbed fingers
• Clubfoot
• Hypoplasia (under development) of the great toe and tibia
• Single umbilical artery
• Abdominal wall defects
• Diaphragmatic hernia
• Intestinal anomalies
• Respiratory anomalies
• Oligohydramnios sequence defects (not enough amniotic fluid is produced in the uterus)
• Low birth weights
• Babies with difficulty gaining weight
• Failure to thrive
• Mild facial asymmetry
• Ear abnormalities
• Narrowing of the voice box
• Choanal atresia (narrowing passages at the back of the nose to the throat)
• Incomplete lobes in the lungs
• Omphalocele (protrusion of intestines through abnormal passage near umbilical cord)
• Intestinal mal-rotation
•  Tethered spinal cord syndrome

VACTERL syndrome characteristics

Causes

The exact cause of VATER is unknown. No specific cause in the environment or in genetics is known. Sometimes more than one person in a family has VATER. Generally it is a sporadic association/syndrome.

Some researchers believe that VATER is caused from the mesodermal layer in the primary layers of the embryo during development. A few cases have been linked to mutations in the FGF8 and mitochondrial DNA. Multiple VATER characteristics can also be linked to fanconi anemia.

VATER occurs in 1 out of 10,000-40,000 babies.

Diagnosis

No laboratory testing is available to diagnose or rule out VATER due to the unknown nature of the association/syndrome. The diagnosis is based off the characteristics seen. A complete medical exam and undergoing specialized testing for the VATER features will help lead to diagnosis.

Life Expectancy

Usually if these children are not born with too many life threatening characteristics of VATER then they can lead normal lives.

Differential diagnosis

VACTERL with hydrocephalus

• Extremely rare
• Characteristics of VATER with additional hydrocephalus
• Hydrocephalus is an excessive accumulation of fluid in the skull
• Results in an abnormally large head due to pressure
• Other symptoms include vomiting, seizures, irritability and sun-setting
• Some children experience troubles meeting developmental milestones
• Symptoms vary from child to child
• VATER with hydrocephalus is genetic and can be inherited

Fanconi Anemia

• Inherited anemia
• Leads to progressive serious bone marrow failure
• Causes weakness, severe bleeding, poor blood clotting and susceptibility to infection
• Associated with heart, kidney and/or skeletal anomalies
• Increased risk of leukemia and other cancer
• Several sub types

CHARGE syndrome

• Rare patterns of malformations that affect several organ systems
• (C) stands for coloboma of the eye (hole in the eye)
• (H) stands for heart defects
• (A) stands for atresia of the choanae (blockage of passage between nose and throat)
• (R) stands for retardation of growth and development and/or mental deficiency
• (G) stands for genital anomalies
• (E) stands for ear anomalies and/or deafness
• Four or more characteristics need to be present for diagnosis
• Small head
• Cleft palate
• Cleft lip
• Swallowing difficulties
• Facial palsy
• Tracheo-esophageal fistula
• Renal malformations
• Caused by spontaneous mutations
• Low re-occurrence risk for the parents
• Some familial cases have been reported

Holt-Oram syndrome

• Rare genetic disorder
• Distinctive malformations of the bones of upper limbs and/or cardiac abnormalities
• Thumbs may be absent, underdeveloped or have an extra bone
• Additional upper limb malformations (hypoplasia of bones, extra bones, malformations of bones or underdevelopment of bones)
• Cardiac abnormalities (anatomical malformations or electrocardiographic conduction defects)
• Atrial and/or ventricular septal defects are common
• Autosomal dominant disorder
• Can be inherited from an affected parent or spontaneous

Townes-Brocks syndrome

• Rare inherited disorder
• Apparent at birth
• Abnormalities involve the face, ears, arms and legs, GI system and kidneys
• Hemifacialmicrosomia (one side of the face appears smaller than the other)
• Ear abnormalities (malformations, excess skin tags, indents in front of the ears and hearing issues)
• Malformations of the thumbs, extra fingers, webbed fingers/toes and other limb peculiarities
• Imperforate anus (absence of anal opening)
• Rectovaginal or rectoperineal fistula (abnormal openings between rectum and genitals)
• Renal hypoplasia (under developed kidneys)
• Urine flows backwards from bladder to ureter
• Heart abnormalities
• Reproductive organ abnormalities
• Autosomal dominant inheritance

Trisomy 18

• Significant overlap with VATER
• Radial ray anomalies
• Congenital heart defect
• Renal malformations
• Growth retardation
• Marked developmental delay often differentiates the two apart in infancy
• Pathogenic processes and etiological factors

Treatment

• Treatment is symptom specific
• Surgically correct structural defects like heart defects, anal atresia or radial defects…
• Followed by specialists (like cardiologists, urologists, orthopedists, ENT specialists and geneticists)
• Genetic counseling
• Team approach
• Palliative care
• Rehabilitation
• Drug therapy
• Diagnostic testing

VATER Syndrome Life Expectancy

Regarding the life expectancy of people with VACTERL association, it is important to note that surgery techniques have improved and when these procedures are applied along with paediatric intensive care, doctors are able to help patients survive longer. In fact many patients having anorectal malformations along with cloacal anomalies and the associated disorders such as VACTERL abnormalities may be able to live almost normal lives. Patients who received proper surgery and comprehensive pediatric intensive care may have a near-normal life expectancy. That said, the fertility and sexual function of the patients remain issues of concern. ¹²

Kids who have VACTERL association battle with various medical concerns and the specific problems tend to vary widely. Surgical procedure may be utilized to help correct some of the malformations, and when it is done optimally, the prognosis of the patients is quite favorable.  Some patients continue to face the challenges brought about by the congenital malformation for the rest of their life, but many survive and turn to be happy, healthy adults. Usually, despite the different congenital malformation, cognitive impairment is not one of the symptoms so these people can learn skills, solve problems, and be able to make decisions in life. In order to enhance the life expectancy of the affected kids, a medical team as well as development specialists should follow the outcomes of the patients. ¹³

While there is paucity of information related to VACTERL association issues which tend to begin or persist in adult, it has been found that children who are diagnosed with the congenital malformations can now survive to reach adulthood at least more frequently that those children who were diagnosed some decades. The reason is again because of the availability and quality of modern surgical treatment for imperforate anus, TE fistula, and congenital heart defects. Enhanced ventilator support, intensive care management, and neonatal anesthesia have helped patients to survive to adulthood.¹⁴

Reference List:

1. National Organization for Rare Disorders, Available from: https://rarediseases.org/rare-diseases/vacterl-association/
2. US National Library of Medicine, https://ghr.nlm.nih.gov/condition/vacterl-association
3. Wikipedia, https://en.wikipedia.org/wiki/VACTERL_association
4. RR School of Nursing, http://www.rrnursingschool.biz/newborns-2/info-qak.html
5. Neo-med. Com, http://synapse.koreamed.org/DOIx.php?id=10.5385/nm.2014.21.1.74&vmode=PUBREADER
6. Dove Med, http://www.dovemed.com/congenital-hydrocephalus/
7. Struggle Group, http://struggle-group.weebly.com/fanconi-anemia.html
8. Charge Across Europe, http://www.chargeacrosseurope.com/cms/pages/pictures-charge-syndrome.php?lang=EN
9. Hx Benefit, http://www.hxbenefit.com/holt-oram-syndrome.html
10. Geocities, http://www.geocities.ws/esm72687/Disease2.html
11. Brandon’s Mosaic Trisomy 18 Journey, http://www.brandonsmt18journey.com/my-story.html
12. Vacterl Syndrome Life Expectancy. Retrieved from https://www.rrnursingschool.biz/anorectal-malformations/introduction-xue.html
13. VACTERL association. Available at https://rarediseases.info.nih.gov/diseases/5443/vacterl-association
14. Long-term outcomes of adults with features of VACTERL association. Available at https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3033487/