Constipation

For parents, caregivers, health care providers, and teachers, concerns and questions often arise regarding the care and well-being of individuals with Zespół Cornelia de Lange (CdLS). 

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.

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