VACTERL Syndrome

A rare congenital disorder affecting multiple organ systems

Contents

Common Features

Overview

VACTERL syndrome, also known as VACTERL association, is a rare congenital disorder characterized by multiple birth defects occurring together more frequently than would be expected by chance. The acronym VACTERL stands for the various organ systems commonly affected: Vertebral anomalies, Anal atresia, Cardiovascular malformations, Tracheoesophageal fistula, Renal anomalies, and Limb defects.

This condition affects approximately 1 in 10,000 to 1 in 40,000 births, with considerable variation in presentation. Not all individuals with VACTERL syndrome have all the associated features, and the severity can range from mild to life-threatening. The diagnosis requires the presence of at least three of the characteristic anomalies, though most patients have four or more features.

VACTERL syndrome is not inherited in a simple Mendelian pattern, and the exact cause remains largely unknown. The condition likely results from a complex interaction of genetic and environmental factors during early embryonic development, specifically between the 4th and 6th weeks of gestation when these organ systems are forming.

Early recognition and comprehensive management are crucial for optimizing outcomes. Treatment typically involves a multidisciplinary approach with various specialists working together to address the multiple system involvement. With appropriate medical and surgical intervention, many individuals with VACTERL syndrome can lead productive lives, though they may require lifelong monitoring and care.

Symptoms and Features

VACTERL syndrome presents with a constellation of congenital anomalies affecting multiple organ systems. The specific combination and severity of features vary significantly between individuals.

Vertebral Anomalies (V)

  • Spinal defects: Hemivertebrae, butterfly vertebrae, or fused vertebrae
  • Scoliosis: Curvature of the spine that may worsen with growth
  • Spinal dysraphism: Incomplete closure of neural tube structures
  • Sacral agenesis: Underdevelopment or absence of sacral vertebrae

Anal Atresia (A)

  • Imperforate anus: Absence of normal anal opening
  • Anal stenosis: Narrowed anal opening
  • Rectovesical fistula: Abnormal connection between rectum and bladder
  • Bowel obstruction: Complete or partial blockage of intestinal tract

Cardiovascular Malformations (C)

  • Ventricular septal defect: Hole in the wall between heart ventricles
  • Atrial septal defect: Hole in the wall between heart atria
  • Tetralogy of Fallot: Complex congenital heart defect
  • Hypoplastic left heart syndrome: Underdevelopment of left side of heart

Tracheoesophageal Fistula (TE)

  • Esophageal atresia: Incomplete development of esophagus
  • Tracheoesophageal fistula: Abnormal connection between trachea and esophagus
  • Feeding difficulties: Problems with swallowing and nutrition
  • Respiratory problems: Aspiration and recurrent pneumonia

Renal Anomalies (R)

  • Kidney agenesis: Absence of one or both kidneys
  • Kidney dysplasia: Abnormal kidney development
  • Vesicoureteral reflux: Backward flow of urine from bladder to kidneys
  • Urinary tract obstruction: Blockage of urine flow

Limb Defects (L)

  • Radial defects: Absent or underdeveloped radius bone
  • Thumb anomalies: Absent, duplicated, or underdeveloped thumbs
  • Polydactyly: Extra fingers or toes
  • Syndactyly: Fused or webbed digits

Associated Symptoms

  • Suprapubic pain: May occur with urinary tract anomalies
  • Emotional symptoms: Psychological impact of chronic medical conditions
  • Growth delays: Failure to thrive due to multiple system involvement
  • Developmental delays: Delays in motor and cognitive development

Treatment Options

Treatment for VACTERL syndrome requires a multidisciplinary approach with specialists from various fields working together to address the complex medical needs.

Surgical Interventions

  • Cardiac surgery: Repair of congenital heart defects
  • Colorectal surgery: Correction of anal atresia and bowel problems
  • Thoracic surgery: Repair of tracheoesophageal fistula
  • Orthopedic surgery: Correction of limb and spinal deformities
  • Urological surgery: Treatment of kidney and urinary tract anomalies

Supportive Care

  • Nutritional support: Specialized feeding techniques and nutritional management
  • Respiratory support: Ventilatory assistance when needed
  • Physical therapy: To optimize motor development and function
  • Occupational therapy: To develop daily living skills

References

  1. Solomon, B. D. (2011). VACTERL/VATER association. Orphanet Journal of Rare Diseases, 6(1), 56.
  2. Botto, L. D., Khoury, M. J., Mastroiacovo, P., et al. (1997). The spectrum of congenital anomalies of the VATER association: an international study. American Journal of Medical Genetics, 71(1), 8-15.
  3. Khoury, M. J., Cordero, J. F., Greenberg, F., et al. (1983). A population study of the VACTERL association: evidence for its etiologic heterogeneity. Pediatrics, 71(5), 815-820.