Constipation
Question
Do people with CdLS generally have problems with their colon?
Answer of our experts
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.