VACTERL Association

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Description

VACTERL association is a rare birth defect complex that affects multiple parts of the body. It is characterized by a combination of birth defects that occur together more often than by chance alone. Learn more about VACTERL association, including its signs and symptoms, causes, diagnosis, management, and how families can thrive.

Genes Involved

The exact cause of VACTERL association is unknown, but it is believed to be a complex combination of genetic and environmental factors. Researchers have identified a number of genes associated with increased risk of VACTERL association, including:

• HOXA13: This gene plays a role in limb development
• SHH: This gene is involved in the development of the brain, spinal cord, and other organs
• TBX5: This gene is important for heart and limb development
• TBX1: This gene plays a role in the development of the thymus, heart, and other organs

It is important to note that the presence of a specific gene does not guarantee the development of VACTERL association. However, having a family history of the condition can increase the risk of having a child with VACTERL association.

Recognizing the Signs and Symptoms

VACTERL association is defined by the presence of at least three of the following birth defects:

• Vertebral defects: Problems with the spine, such as spina bifida or scoliosis
• Anal atresia or imperforate anus: The anus may be closed or missing entirely
• Cardiac defects: Heart problems like ventricular septal defects or tetralogy of Fallot
• Tracheo-esophageal fistula: A connection between the trachea (windpipe) and esophagus (tube that carries food to the stomach)
• Renal anomalies: Kidney problems such as kidney malformations or absent kidneys
• Limb anomalies: Missing fingers or toes, or other limb malformations

While not all individuals with VACTERL association will have all of these defects, the presence of multiple defects can present significant challenges for individuals and their families. The severity of these defects can vary greatly from person to person.

Causes

The causes of VACTERL association are not fully understood. While there is no single known cause, it is likely a combination of genetic and environmental factors contribute to its development. These factors may include:

• Genetic predisposition: Certain genes, such as those mentioned above, can increase the risk of developing VACTERL association.
• Environmental factors: Exposure to certain environmental factors during pregnancy, like teratogens (substances that can cause birth defects), may play a role. However, the specific environmental factors associated with VACTERL association are not known.
• Random chance: In some cases, VACTERL association may occur due to random events during fetal development.

Further research is needed to fully understand the complex interplay of these factors in the development of VACTERL association.

Inheritance/recurrence risk

VACTERL association is typically not an inherited condition. However, there is a slightly increased risk of having another child with VACTERL association if you have already had one child with the condition. The exact risk depends on factors like the specific defects present in the first child and the family history. It is important to speak with a genetic counselor if you have concerns about the risk of recurrence.