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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. Constipation is common in CdLS and fairly treatable with medications and increasing fiber in the diet.

TK 7-13-10

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Find other pages that share the same topic as this page Constipation1 Constipation9 Gastrointestinal Problems1 Gastrointestinal Problems11

Recommendation(s)

Gastrointestinal Problems

R28
Every new born suspected or proven to have CdLS should be carefully evaluated for signs and symptoms consistent with gastrointestinal malformations.

Recommendation(s)

Constipation

R31
Constipation is present in almost half of all individuals with CdLS and should be treated as in the general population.

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