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Phenotypic Analysis of Patients with SMC1A Mutations and Epilepsy

the Cornelia de Lange Syndrome (CdLS) Foundation USA
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Gastrointestinal problems are one of the most common health problems in CdLS. Difficulties with the upper gastrointestinal tract, including the oesophagus, stomach and upper small intestine are common. Many gastrointestinal problems in CdLS are present from birth and often constrict or block areas of the digestive system.

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.


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