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Down syndrome symptoms vary from person to person and can range from mild to severe. However, children with Down syndrome have a widely recognized appearance.
The head may be smaller than normal and abnormally shaped. For example, the head may be round with a flat area on the back. The inner corner of the eyes may be rounded instead of pointed.
Common physical signs include:
Physical development is often slower than normal. Most children with Down syndrome never reach their average adult height.
Children may also have delayed mental and social development. Common problems may include:
As children with Down syndrome grow and become aware of their limitations, they may also feel frustration and anger.
Many different medical conditions are seen in people with Down syndrome, including:
A doctor can often make an initial diagnosis of Down syndrome at birth based on how the baby looks. The doctor may hear a heart murmur when listening to the baby's chest with a stethoscope.
A blood test can be done to check for the extra chromosome and confirm the diagnosis. See: Chromosome studies
Other tests that may be done include:
Persons with Down syndrome need to be closely screened for certain medical conditions. They should have:
ACOG Committee on Practice Bulletins. ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol. 2007 Jan;109(1):217-227.
AAP Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics. 2001 Feb;107(2):442-449.
Davidson MA. Primary care for children and adolescents with Down syndrome. Pediatr Clin North Am. 2008;55:1099-1111.
Simpson JL, Otaño L. Prenatal genetic diagnosis. In: Gabbe SG, Niebyl JR, Simpson JL, eds. Obstetrics:Normal and Problem Pregnancies. 5th ed. Philadelphia, Pa: Elsevier Churchill Livingstone; 2007:chap 7.
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