Hirschsprung's disease is a condition that is present at birth due to the absence of nerves in the colon. Without these nerves, an affected individual will have difficulty passing stool. The most obvious symptom of this disease is when a newborn baby does not have a bowel movement within the first few days of life. However, in less severe cases, an affected individual may still have bowel movements and the disease may not be diagnosed until later when the child has difficulty becoming toilet trained or has difficulty controlling his or her bowel movements. Other symptoms of Hirschsprung's disease in newborns include vomiting, an enlarged abdomen, constipation, gas, or diarrhea. In older children, the symptoms may include chronic constipation, gas, an enlarged abdomen, fatigue, and failure to gain weight.
Hirschsprung's disease may be caused by a genetic mutation, although the exact inheritance is not well known. A major complication associated with this disease is the development of enterocolitis later in life, which is a condition caused by inflammation of the colon and can be life threatening. Factors that increase the risk of a newborn having Hirschsprung's disease include having a sibling with the disease, male gender, or certain genetic conditions such as Down syndrome (trisomy 21). Hirschsprung's disease is treated with surgery to remove the affected portion of the colon. After surgery, it is important to watch for signs that may indicate complications, such as vomiting, bleeding from the rectum, diarrhea, fever, or an enlarged abdomen. Support groups are available as a resource for more information.