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Key Features

  • Occurs in about 1:700 newborns

  • Cognitive disabilities in the mild/moderate range

  • Generalized hypotonia

  • Prolonged physiologic jaundice

  • Transient blood count abnormalities

  • Feeding problems and constipation common during infancy

Clinical Findings

  • Flattened occiput

  • Characteristic facies

    • Upslanting palpebral fissures

    • Epicanthal folds

    • Midface hypoplasia

    • Small, dysplastic pinnae

  • Minor limb abnormalities

  • About 33–50% of children have congenital heart disease, most often endocardial cushion defects or other septal defects

  • Anomalies of the gastrointestinal tract, including esophageal and duodenal atresias, are seen in about 15% of cases


  • Problems that may develop during childhood include

    • Thyroid dysfunction

    • Visual issues

    • Hearing loss

    • Obstructive sleep apnea

    • Celiac disease

    • Atlanto-occipital instability

    • Autism

  • Leukemia is 12–20 times more common in patients with Down syndrome


  • Interventions for specific issues indicated

    • Surgical intervention for cardiac and gastrointestinal anomalies

    • Screening for autoimmune disorders, such as hypothyroidism and celiac disease

    • Developmental supports, such as

      • Infant stimulation programs

      • Special education

      • Physical, occupational, and speech therapies

  • Parents' participation in support groups such as the local chapter of the National Down Syndrome Congress should be encouraged (see

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