Information
Meetings

Phenotypic Analysis of Patients with SMC1A Mutations and Epilepsy

the Cornelia de Lange Syndrome (CdLS) Foundation USA
1 wai.campaign.supporter.description
wai.campaign.start.event.finished

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.

                                                                                                                                                                                                                                                                                                                                                             

Find other pages that share the same topic as this page SMC1A4 SMC1A1 Autonomic nervous system6 Seizures1