VACTERL Association ... (VACTERL Association)
VACTERL association is an association of congenital malformidades which affects many body systems and involves at least the presence of three of the following signs: vertebral defects, anal atresia, heart defects, tracheoesophageal fistula, renal abnormalities and limb abnormalities . Although some people affected may have additional abnormalities these are not among the characteristic features of the disease.
Defects in the vertebrae are present in 60% to 80% of people with the disease. These defects can include misshapen vertebrae, fused vertebrae and vertebrae or the absence of additional vertebrae. In some people, back problems require surgery or result in health problems such as back pain of varying severity, throughout life. Between 60% and 90% of individuals presents anal atresia, which may be accompanied by genitourinary abnormalities. Between 40% and 80% of individuals with the disease they have heart defects that can vary in intensity or severity, can not cause health problems or may be life threatening. Moreover, between 50% and 80% of people with VACTERL association has a tracheoesophageal fistula can cause problems with breathing and feeding and usually requires surgical correction in childhood. Other common feature is the presence of renal abnormalities. These may occur in 50% to 80% of affected individuals and may include the absence of one or both kidneys, or deformity of the kidneys, which affects renal function and abnormal development. For their part, limb abnormalities are observed between 40% and 50% of people with the disease, and may include poorly developed or absent or underdeveloped hands and forearms thumbs.
Some features of the VACTERL association can be subtle and are not identified until late childhood or even adulthood, making diagnosis of the disease can be difficult.
The VACTERL association is a complex disease that can have different causes in different people. In some people, it is likely that the disease is due to the interaction of multiple genetic and environmental factors. Some possible genetic and environmental influences have been identified and are being studied. The developmental abnormalities characteristic of the disease, occur before birth. Disruption in fetal development that causes the disease probably occurs in early development, leading to birth defects that affect multiple systems.
Most cases are sporadic VACTERL association, which means that occur in people with no history of disease in your family. In rare cases, families have multiple affected individuals with VACTERL association. A few individuals affected have relatives with one or two characteristics, but are not considered sufficient signs to be diagnosed with the disease. Often in these families, the characteristics of the association VACTERL have no clear pattern of inheritance. It is likely that multiple genetic and environmental factors are involved in determining the risk of developing the disease and its severity.