Gastrointestinal Problems

Gastrointestinal Problems

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. Frequent gastrointestinal problems include:

• Duodenal Atresia. Duodenal Atresia is the blockage of the duodenum bowel which prevents food and fluid passing from the stomach to the intestines.
• Annular Pancreas. A ring of pancreatic tissue constricts the duodenum bowel which adjoins to the stomach. This can block or impair the flow of food to the intestines (⁸⁰).
• Imperforate Anus. This is where the opening to the anus, where stools leave the body, is missing or blocked (⁸¹).
• Meckel Diverticulum. This is a slight bulge in the small intestine. It is often present at birth and is left over from the umbilical cord (59).
• Congenital Diaphragmatic Hernia. This is where there is a hole in the diaphragm (muscles under the lungs that are responsible for breathing) allowing organs from the abdomen to move into the chest (⁸²,⁸³).
• Pyloric Stenosis. Pyloric Stenosis is where the opening from the stomach to the first part of the small intestine is smaller than usual. It occurs in up to 7% of patients with CdLS (², ³⁵).
• Inguinal Hernia. An Inguinal hernia occurs when part of the bowel pokes through the groin due to a weakening in the groin muscles. Inguinal hernias are common in childhood in CdLS (²).

Every individual suspected or proven to have CdLS should be carefully evaluated for signs and symptoms of any of these gastrointestinal problems that are likely to be present from birth (R28).

Antonie D. Kline, Joanna F. Moss, […]Raoul C. Hennekam

_{Adapted from: Kline, A. D., Moss, J. F., Selicorni, A., Bisgaard, A., Deardorff, M. A., Gillett, P. M., Ishman, S. L., Kerr, L. M., Levin, A. V., Mulder, P. A., Ramos, F. J., Wierzba, J., Ajmone, P.F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D., Grados, M., Groves, L., Guthrie, W., Huisman, S., Kaiser, F. J., Koekkoek, G., Levis, M., Mariani, M., McCleery, J. P., Menke, L. A., Metrena, A., O’Connor, J., Oliver, C., Pie, J., Piening, S., Potter, C. J., Quaglio, A. L., Redeker, E., Richman, D., Rigamonti, C., Shi, A., Tümer, Z., Van Balkom, I. D. C. and Hennekam, R. C. (2018).}

Source:

Diagnosis and management in Cornelia de Lange Syndrome: First international consensus statement. Nature Reviews Genetics, 19, 649-666, published on 11 Juli 2018

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Erstellt von Gerritjan Koekkoek am 2019/03/27 15:09