Handbook of Genetic Counseling/VATER Association

VATER Association

What is VATER Association?

• VATER association is an acronym for a sporadic constellation of findings that occur together more often than by chance alone.
• The major anomalies associated with this constellation are: Vertebral defects, Anal atresia, Tracheoesophageal fistula, Esophageal atresia, and Renal/Radial defects.
• The term VACTERL association is sometimes used in place of VATER because two additional features (cardiac and limb/radial) are more specifically identified in the acronym.

Diagnosis

• The VATER/VACTERL association represents a core group of 7 anomalies (see above), but very few patients have all 7 features.
• The average number of features per patient is 3 to 4, but no minimum criteria have been agreed on regarding which of these features or what combination of these constitutes a secure diagnosis.
• Some propose that at least 1 anomaly in each of the 3 geographic regions of involvement (limb, thorax, and pelvis/lower abdomen) should constitute a "secure" diagnosis.
• Thus, qualification as "probable" VATER/VACTERL association requires at least 2 anomalies in each of 2 geographic areas to qualify.
• VATER/VACERL represents a classic example of a "diagnosis of exclusion." There is no facial gestalt to aid pattern recognition, and its core features are commonly found in other situations and syndromes.
• Thus, clinicians need to exclude all other similar clinical entities, to have obtained a normal chromosome analysis, and to exclude teratogenic exposure during early gestation.

Prognosis

• The long-term prognosis for children with the VATER/VACTERL association is variable.
• Each surgical anomaly seems, prognostically, independent of the other.
• If each surgical defect can be satisfactorily repaired and/or medically treated, the prognosis is excellent. If some defects cannot be totally repaired or persist with sequelae, then the prognosis is the sum total of the residual problems.
• There is generally a good prognosis for intelligence.

Features of VATER Association

• Other anomalies and abnormalities that occur in the VATER/VACTERL association are:

o Single umbilical artery o Cleft lip o Polydactyly (preaxial) o Small intestinal atresia o Auricular aberrations o Genital/urogenital defects

• Rare instances of caudal regression and lower extremity defects have also been reported.
• Intrauterine growth retardation of unexplained etiology is occasionally present.
• The differential diagnosis list when considering the VATER/VACTERL association is long because so many anomalies can be found as components of other syndromes.
• Congenital heart failure, renal dysfunction, or gastrointestinal disorder can cause poor growth; therefore adequacy of caloric intake should be assessed. Gastrostomy tube feedings may be necessary.
• Early psychomotor delay, and behavioral problems can occur.
• Poor body image may be noted especially in children with limb deficiencies, short statures, complicated anal atresia with persistent intestinal problems, or external genital abnormalities.
• Vertebral anomalies are generally not extensive and most often occur in upper to mid thoracic and lumbar regions, with sacral and lower cervical defects being less common. Hemivertebrae are most common, but dyssegmented and fused vertebral bodies can also be found.
• Limb anomalies are restricted to the upper limbs and are usually preaxial, involving underdevelopment or agenesis of the thumbs and radial bones. These defects are usually bilateral but often asymmetric in degree.
• 50-60% of patients with VATER/VACTERL association have either tracheoesophageal fistula or esophageal atresia. The majority of children with these abnormalities survive if their other associated anomalies are amenable to therapy.
• Approximately 37% of patients with tracheoesophageal fistula and esophageal atresia have cardiac defects.
• Anal atresia (imperforate anus) requires immediate attention. The presence of anal atresia is associated with an increased incidence of external anomalies of the genitalia, internal anomalies of the urinary and reproductive tracts, and vertebral defects of the lumber and sacral spine.

Management

• VATER/VACTERL association is very complex from the clinical management standpoint because all 7 of its core features may necessitate surgical intervention.
• There are potentially an impressive number of specialists that could be required for any one child including a geneticist, orthopedist, urologist, cardiac surgeon, nephrologist, gastroenterologist, pulmonologist, physical therapist, nutritionist, psychologist, and more.
• The need for long-term follow-up by most of the specialists is labor intensive for the child and family.
• Physical therapy and infant stimulation are important because of the frequent and prolonged hospitalizations.

Prevalence and Inheritance

• VATER association is a relatively common, nonrandom multiple-malformation condition.
• The incidence is reported to be 1.6 in 10,000 (Cassidy).
• No consistent or recurring etiology has been established for the VATER/VACTERL association. It has been more frequently reported in the offspring of diabetic mothers.
• Most cases occur as sporadic events with low recurrence risk.
• It is generally felt to be a heterogeneous disorder with the various yet-to-be established etiologies working through a common embryological pathway.

Recurrence Risks

• The pattern of malformation has generally been a sporadic occurrence; thus, there is probably a low recurrence risk (<1%).

Patient Resources

• TEF/VATER International Support Network

o C/o Greg and Terri Burke o (301) 952-6837

• VATER Connection Web Site

o www.vaterconection.org/main.htm

Definitions

• Esophageal atresia: congenital failure of the esophagus to develop
• Anal atresia: imperforate anus, anus without an opening
• Tracheoesophageal fistula: congenital defect linking the trachea and the esophagus, resulting from failure of the lungs to separate from the GI tract during development. Surgery is needed to prevent recurring episodes of aspiration pneumonia in the newborn.
• Hypospadias: abnormal congenital opening of the male urethra upon the undersurface of the penis.
• Anoplasty: reconstructive surgery of the anus
• Colostomy: opening of a portion of the colon through the abdominal wall to its skin surface.
• Nissen fundoplication: surgical correction of esophageal hernia or gastroesophageal reflux, by wrapping the gastric cardia with adjacent portions of the gastric fundus. The procedure re-establishes the gastroesophageal angle and prevents intrathoracic displacement of the stomach.

References

• Cassidy, Suzanne B., Judith E. Allanson. Management of Genetic Syndromes. Chapter 28: VATER association by Bryan D. Hall, pp. 485-497, 2001.
• OMIM online at www.ncbi.nih.gov
• Smith's p. 664

Notes

The information in this outline was last updated in 2002.