Which GI findings are characteristic of Down syndrome?

Updated: Apr 30, 2018
  • Author: Gratias Tom Mundakel, MBBS, DCH; Chief Editor: Maria Descartes, MD  more...
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Newborns with Down syndrome may often have initial difficulty in establishing successful breastfeeding.

GI abnormalities occur in approximately 12% of patients. Duodenal atresia or stenosis (occasionally associated with annular pancreas) may be seen in 2.5% of newborns with Down syndrome. Hirschsprung disease (< 1%), tracheoesophageal fistula, Meckel diverticulum, imperforate anus, and omphalocele are also observed. About 25% of infants with duodenal atresia, stenosis, or annular pancreas have Down syndrome.

An increased incidence of celiac disease has been reported in Down syndrome. Signs and symptoms include growth failure, abdominal pain, and loose stools. Prevalence in individuals with Down syndrome is reportedly 5-15% in different European and US studies. Celiac disease occurs in genetically susceptible individuals, specifically those who have the human leukocyte antigen (HLA) heterodimers DQ2 (observed in 86-100% of individuals with celiac disease) and DQ8. These are strong linkages with high sensitivity and poor specificity.

Gastroesophageal reflux and swallowing difficulties are also common in individuals with Down syndrome.

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