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Intestinal malrotation

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

A small number of individuals with CdLS have been reported to have intestinal malrotation. This is an abnormality that can happen early in pregnancy when a baby’s intestines do not form into a coil in the abdomen.

Malrotation means that the intestines (or bowels) are twisted, which can cause a blockage. Intestinal malrotation may recur during infancy, childhood or puberty. 

Recommendation(s)

Intestinal malrotation

R29
Presentation of any abdominal symptoms in an individual with CdLS, irrespective of age, should prompt consideration of intestinal malrotation.
R30
Evaluation for the presence of intestinal malrotation needs to be discussed and decided together with the family, balancing the potential gain in health and burden for the individual with CdLS.

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