Hirschsprung Disease (colon problems)
Do people with CdLS generally have problems with their colon?
I believe that you are asking about Hirschsprung disease, which occurs when the nerve endings of the end of the colon are not working, and there can be enlargement and constipation, etc. This usually is diagnosed in infancy, but does not have to be. It can present as chronic constipation and often abdominal distention in the older child. It is diagnosed by a rectal biopsy and treatment is surgical removal of the segment of colon without ganglia (nerve endings). I myself have not heard of any people with CdLS with this condition, nor are colon problems a common complaint. Constipation is common in CdLS and fairly treatable with medications and increasing fiber in the diet.
Legal Disclaimer: Please take note that the CdLS Foundation's Ask the Expert service is comprised of volunteer professionals in various areas of focus. Response times may vary and a response is not guaranteed. Answers are not considered a medical, behavioral, or educational consultation. Ask the Expert is not a substitute for the care and attention your child's personal physician, psychologist, educational consultant, or social worker can deliver.