SNP Shot: Genomic Insights

VACTERL association is a complex condition affecting multiple body systems. The acronym VACTERL represents its key features: Vertebral defects, Anal atresia, Cardiac defects, Tracheo-Esophageal fistula, Renal anomalies, and Limb abnormalities. Diagnosis typically requires the presence of at least three of these characteristics. Individuals with VACTERL association may also exhibit other, less common, abnormalities.

Spinal defects (vertebral), such as misshapen, fused, or extra vertebrae, are found in 60-80% of those with VACTERL association. These defects can range from minor to severe, sometimes requiring surgery or causing chronic back pain. Anal atresia, a narrowing or blockage of the anus, affects 60-90% of individuals and can be accompanied by genitourinary issues. Heart defects are present in 40-80% of cases, varying in severity from mild to life-threatening. A tracheo-esophageal fistula, an abnormal connection between the esophagus and trachea, occurs in 50-80% of individuals, often requiring surgical intervention in infancy to address breathing and feeding difficulties. Renal (kidney) anomalies, affecting 50-80%, can involve missing, underdeveloped, or misshapen kidneys, impacting kidney function. Limb abnormalities, primarily affecting the thumbs, forearms, and hands, are observed in 40-50% of affected individuals.

Due to the subtle nature of some VACTERL features, diagnosis can be delayed until later in childhood or adulthood, making identification challenging.

Inheritance:

VACTERL association is usually sporadic, meaning it appears without a family history of the condition. In rare instances, multiple family members are affected. Some individuals might have relatives with one or two VACTERL features, but not enough for a full diagnosis. In these cases, the inheritance pattern is unclear. The development and severity of VACTERL association likely involve a combination of genetic and environmental influences.