Down Syndrome

Overview

Down syndrome is a genetic condition that causes delays in physical and intellectual development. Individuals with Down syndrome have extra genetic material from chromosome #21, most commonly a third chromosome #21 (Trisomy 21).

Down syndrome is usually identified at or shortly after birth based on physical characteristics such as low muscle tone, a single crease across the palm of the hand, a slightly flattened facial profile and an upward slant to the eyes. Some children are identified by testing done during pregnancy (prenatal screening). A chromosome study (karyotype) is needed to confirm the diagnosis.

Down syndrome occurs in approximately one in every 800 live births.

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