Diseases associated with Down syndrome

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Diseases associated with Down syndrome

People with Down syndrome have an increased risk of being born with or developing certain diseases, such as:

• Heart disease. About half of children with Down syndrome have heart defects at birth.¹ These defects may need early treatment to prevent heart failure.
• Thyroid disease. Thyroid disease develops in some children with Down syndrome. Sometimes thyroid disease is detected at birth, but most often it is diagnosed when the child is older or an adult. An underactive thyroid (hypothyroidism) is more common than an overactive thyroid (hyperthyroidism). It occurs in about 5 out of 100 people with Down syndrome.²
• Digestive system problems. Constipation and intestinal blockages can develop because of poor muscle tone (hypotonia). Celiac disease, which is an inability to break down gluten protein, sometimes develops and requires a special diet. In rare cases, structural defects within the digestive tract cause problems such as tracheoesophageal fistula or abnormal narrowing (stenosis) of the duodenum.
• Eye problems. Children with Down syndrome may have eye problems, some of which are minor (blepharitis, blocked tear ducts, astigmatism, strabismus, nearsightedness, and farsightedness). Serious problems, such as cataracts or diseases of the cornea, are less common.
• Alzheimer's disease. An adult with Down syndrome has an increased risk for developing Alzheimer's disease.
• Childhood leukemia. Although the risk for developing leukemia is low (less than 1%), a child with Down syndrome is at greater risk than other children.²

But keep in mind—your child with Down syndrome may never have any of these problems even though he or she is at increased risk.

Also, people with Down syndrome have less of a chance than most people of developing coronary artery disease and cancer (except leukemia and testicular cancer).³

References

Citations

1. Elias ER, et al. (2007). Chromosomal disorders: Abnormal number section of Genetics and dysmorphology. In WW Hay et al., eds., Current Pediatric Diagnosis and Treatment, 18th ed., pp. 1031–1032. New York: Lange Medical Books/McGraw-Hill.

2. Saitta SC, Zackai EH (2005). Specific chromosome disorders in newborns. In HW Taeusch et al., eds., Avery's Diseases of the Newborn, 8th ed., pp. 204–215. Philadelphia: Elsevier Saunders.

3. Roizen NJ, Patterson D (2003). Down's syndrome. Lancet, 361: 1281–1289.

Credits

Last updated:	August 09, 2007
Author:	Debby Golonka, MPH
Reviewed By:	Adam Husney, MD - Family Medicine, David Smith, MD - Family Medicine
Editors:	Susan Van Houten, RN, BSN, MBA, Pat Truman, MATC