What are the causes and symptoms of Hirschsprungs disease?
Hirschsprung’s disease occurs early in fetal development when, for unknown reasons, there is either failure of nerve cell development, failure of nerve cell migration, or arrest in nerve cell development in a segment of the bowel. The absence of these nerve fibers, which help control the movement of bowel contents, is what results in intestinal obstruction accompanied by other symptoms. There is a genetic basis to Hirschsprung’s disease, and it is believed that it may be caused by different genetic factors in different subsets of families. Proof that genetic factors contribute to Hirschprung’s disease is that it is known to run in families, and it has been seen in association with some chromosome abnormalities. For example, about 10% of children with the disease have Down syndrome (the most common chromosomal abnormality). Molecular diagnostic techniques have identified many genes that cause susceptibility to Hirschprung’s disease. As of the early 2000s, a total of six genes have been
